Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
Inborn errors of carbohydrate metabolism are genetic disorders that result from enzyme deficiencies or transport defects in the metabolic pathways responsible for breaking down and processing carbohydrates, leading to accumulation of toxic intermediates or energy deficits, and typically presenting with multisystem clinical manifestations.
An N-acyl derivative of neuraminic acid. N-acetylneuraminic acid occurs in many polysaccharides, glycoproteins, and glycolipids in animals and bacteria. (From Dorland, 28th ed, p1518)
A group of naturally occurring N-and O-acyl derivatives of the deoxyamino sugar neuraminic acid. They are ubiquitously distributed in many tissues.
A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Proteins involved in the transport of organic anions. They play an important role in the elimination of a variety of endogenous substances, xenobiotics and their metabolites from the body.
An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
The profession of writing. Also the identity of the writer as the creator of a literary production.
Organic compounds containing the carboxy group (-COOH). This group of compounds includes amino acids and fatty acids. Carboxylic acids can be saturated, unsaturated, or aromatic.
Collections of facts, assumptions, beliefs, and heuristics that are used in combination with databases to achieve desired results, such as a diagnosis, an interpretation, or a solution to a problem (From McGraw Hill Dictionary of Scientific and Technical Terms, 6th ed).
The guidelines and policy statements set forth by the editor(s) or editorial board of a publication.
Intentional falsification of scientific data by presentation of fraudulent or incomplete or uncorroborated findings as scientific fact.
"The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.
A class of amino acids characterized by a closed ring structure.
Individuals enrolled in a school or formal educational program.
The teaching staff and members of the administrative staff having academic rank in a medical school.
The teaching staff and members of the administrative staff having academic rank in an educational institution.
Individuals enrolled in a school of medicine or a formal educational program in medicine.
Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. (Webster, 3d ed)
A biologic alkylating agent that exerts its cytotoxic effects by forming DNA ADDUCTS and DNA interstrand crosslinks, thereby inhibiting rapidly proliferating cells. The hydrochloride is an antineoplastic agent used to treat HODGKIN DISEASE and LYMPHOMA.
Copies of a work or document distributed to the public by sale, rental, lease, or lending. (From ALA Glossary of Library and Information Science, 1983, p181)

Benzyl-N-acetyl-alpha-D-galactosaminide induces a storage disease-like phenotype by perturbing the endocytic pathway. (1/17)

The sugar analog O-benzyl-N-acetyl-alpha-d-galactosaminide (BG) is an inhibitor of glycan chain elongation and inhibits alpha2,3-sialylation in mucus-secreting HT-29 cells. Long-term exposure of these cells to BG is associated with the accumulation of apical glycoproteins in cytoplasmic vesicles. The mechanisms involved therein and the nature of the vesicles have not been elucidated. In these cells, a massive amount of BG metabolites is synthesized. Because sialic acid is mainly distributed apically in epithelial cells, it has been proposed that the BG-induced undersialylation of apical membrane glycoproteins is responsible for their intracellular accumulation due to a defect in anterograde traffic and that sialic acid may constitute an apical targeting signal. In this work, we demonstrate that the intracellular accumulation of membrane glycoproteins does not result mainly from defects in anterograde traffic. By contrast, in BG-treated cells, endocytosed membrane proteins were retained intracellularly for longer periods of time than in control cells and colocalized with accumulated MUC1 and beta(1) integrin in Rab7/lysobisphosphatidic acid(+) vesicles displaying features of late endosomes. The phenotype of BG-treated cells is reminiscent of that observed in lysosomal storage disorders. Sucrose induced a BG-like, lysosomal storage disease-like phenotype without affecting sialylation, indicating that undersialylation is not a requisite for the intracellular accumulation of membrane glycoproteins. Our findings strongly support the notion that the effects observed in BG-treated cells result from the accumulation of BG-derived metabolites and from defects in the endosomal pathway. We propose that abnormal subcellular distribution of membrane glycoproteins involved in cellular communication and/or signaling may also take place in lysosomal storage disorders and may contribute to their pathogenesis.  (+info)

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease. (2/17)

BACKGROUND: Sialic acid storage diseases (SSDs) are severe autosomal recessive neurodegenerative disorders caused by a transport defect across the lysosomal membrane, which leads to accumulation of sialic acid in tissues, fibroblasts, and urine. Defective free sialic acid transport can be established by quantification of free sialic acid in urine. METHODS: Urine sample size was adjusted to the equivalent of 100 nmol of creatinine. After addition of 2-keto-3-deoxy-d-glycero-d-galactonononic acid as internal standard, samples were diluted with water to an end volume of 250 microL. We used 10 microL for HPLC-tandem mass spectrometric analysis in the negative electrospray ionization mode, monitoring transitions m/z 308.3-->m/z 86.9 (sialic acid) and m/z 267.2-->m/z 86.9 (internal standard). The overall method was validated and studied for ion suppression, interfering compounds, and pH effects. Samples from controls (n = 72) and SSD patients (n = 3) were analyzed. RESULTS: The limit of detection was 3 micromol/L. Intraassay imprecision (CV; n = 10) was 6%, 3%, and 2% at 30, 130, and 1000 mmol/mol creatinine, respectively; corresponding interassay CV (n = 10) were 5%, 5%, and 2%. Recovery was 109% (100-1000 mmol/mol creatinine). The mean (SD) [range] excretion rates (mmol/mol creatinine) were 31.3 (16.6) [0.7-56.9] at 0-1 year (n = 20), 21.2 (9.8) [6.3-38.3] at 1-3 years (n = 15), 14.4 (8.2) [1.7-32.9] at 3-10 years (n = 25), and 4.6 (2.6) [0-9.8] above age 10 years (n = 12). SSD patients 1.2, 3.9, and 12 years of age had concentrations of 111.5, 54.2, and 36.1 mmol/mol creatinine, respectively. CONCLUSIONS: The HPLC-tandem MS method for free sialic acid in urine is more rapid, accurate, sensitive, selective, and robust than earlier methods and may serve as a candidate reference method for free sialic acid in diagnosis of SSD.  (+info)

Functional characterization of wild-type and mutant human sialin. (3/17)

The modification of cell surface lipids or proteins with sialic acid is essential for many biological processes and several diseases are caused by defective sialic acid metabolism. Sialic acids cleaved off from degraded sialoglycoconjugates are exported from lysosomes by a membrane transporter, named sialin, which is defective in two allelic inherited diseases: infantile sialic acid storage disease (ISSD) and Salla disease. To develop a functional assay of human sialin, we redirected the protein to the plasma membrane by mutating a dileucine-based internalization motif. Cells expressing the plasmalemmal construct accumulated neuraminic acid at acidic pH by a process equivalent to lysosomal efflux. The assay was used to determine how pathogenic mutations affect transport. Interestingly, while two missense mutations and one small, in-frame deletion associated with ISSD abolished transport, the mutation causing Salla disease (R39C) slowed down, but did not stop, the transport cycle, thus explaining why the latter disorder is less severe. Since neurological symptoms predominate in Salla disease, our results suggest that sialin is rate-limiting to specific sialic acid-dependent processes of the nervous system.  (+info)

Varied mechanisms underlie the free sialic acid storage disorders. (4/17)

Salla disease and infantile sialic acid storage disorder are autosomal recessive neurodegenerative diseases characterized by loss of a lysosomal sialic acid transport activity and the resultant accumulation of free sialic acid in lysosomes. Genetic analysis of these diseases has identified several unique mutations in a single gene encoding a protein designated sialin (Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., and Mancini, G. M. (1999) Nat. Genet. 23, 462-465; Aula, N., Salomaki, P., Timonen, R., Verheijen, F., Mancini, G., Mansson, J. E., Aula, P., and Peltonen, L. (2000) Am. J. Hum. Genet. 67, 832-840). From the biochemical phenotype of the diseases and the predicted polytopic structure of the protein, it has been suggested that sialin functions as a lysosomal sialic acid transporter. Here we directly demonstrate that this activity is mediated by sialin and that the recombinant protein has functional characteristics similar to the native lysosomal sialic acid transport system. Furthermore, we describe the effect of disease-causing mutations on the protein. We find that the majority of the mutations are associated with a complete loss of activity, while the mutations associated with the milder forms of the disease lead to reduced, but residual, function. Thus, there is a direct correlation between sialin function and the disease state. In addition, we find with one mutation that the protein is retained in the endoplasmic reticulum, indicating that altered trafficking of sialin is also associated with disease. This analysis of the molecular mechanism of sialic acid storage disorders is a further step in identifying therapeutic approaches to these diseases.  (+info)

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. (5/17)

BACKGROUND: Sialic acid storage diseases (SASDs) are caused by the defective transport of free sialic acid outside the lysosome. Apart from the Salla presentation in Finland, SASD is a very rare form of lysosomal storage disease (LSD) with approximately 35 cases, all diagnosed after birth, having been reported worldwide. We report a series of 12 French patients with very early manifestations, including eight fetuses diagnosed in utero. RESULTS: Ultrasound examination, fetal autopsy, or clinical examination showed prominent ascites, rarely progressing to complete hydrops, and highlighted the early severity of bone disease. Dramatic increase of free sialic acid in various biological samples confirmed the diagnosis in all cases. Storage staining affinities and storage distribution in placenta and fetal organs allowed differential diagnosis from other LSDs but cannot differentiate between SASD, sialidosis, and galactosialidosis. Fourteen different mutations were identified, showing the molecular heterogeneity of SASD in the French population. We found that the previously described p.Y306X mutation generated two different transcripts, and we identified seven novel mutations: three deletions (del exon 7, del exons10+11 and c.1296delT), one splice site mutation (c.1350+1G-->T) one nonsense mutation (p.W339X), and two missense mutations (p.R57C and p.G127E). CONCLUSIONS: The severity of our patients' genotypes is in agreement with their phenotypes but not with the importance and early appearance of the very frequent in utero manifestations. Minimal fetal disease in some patients and a reported case of heterogeneity of fetal involvement within a family suggest that factors other than the genotype influence fetal manifestations.  (+info)

The intracellular concentration of sialic acid regulates the polysialylation of the neural cell adhesion molecule. (6/17)

Sialic acids are expressed as terminal sugars in many glycoconjugates and play an important role during development and regeneration, as they are involved as polysialic acid in a variety of cell-cell interactions mediated by the neural cell adhesion molecule NCAM. The key enzyme for the biosynthesis of sialic acid is the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine-kinase (GNE). Mutations in the binding site of the feedback inhibitor CMP-sialic acid of the GNE leads to sialuria, a disease in which patients produce sialic acid in gram scale. Here, we report on the consequences after expression of a sialuria-mutated GNE. Expression of the sialuria-mutated GNE leads to a dramatic increase of both cellular sialic acid and polysialic acid on NCAM. This could also be achieved by application of the sialic acid precursor N-acetylmannosamine. Our data suggest that biosynthesis of sialic acid regulates and limits the synthesis of polysialic acid.  (+info)

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. (7/17)

Sialuria is an inborn error of metabolism characterized by coarse face, hepatomegaly and recurrent respiratory tract infections. The genetic defect in this disorder results in a loss of feedback control of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine-kinase by CMP-N-acetylneuraminic acid (CMP-NeuAc) resulting in a substantial overproduction of cytoplasmic free sialic acid. This study addresses fibroblast CMP-NeuAc levels and N- and O-glycan sialylation of serum proteins from Sialuria patients. CMP-NeuAc levels were measured with HPLC in fibroblasts. Isoelectric focusing (IEF) of serum transferrin and of apolipoprotein C-III (apoC-III) was performed on serum of three Sialuria patients. Isoforms of these proteins can be used as specific markers for the biosynthesis of N- and core 1 O-glycans. Furthermore, total N- and O-linked glycans from serum proteins were analyzed by HPLC. HPLC showed a clear overproduction of CMP-NeuAc in fibroblasts of a Sialuria patient. Minor changes were found for serum N-glycans and hypersialylation was found for core 1 O-glycans on serum apoC-III and on total serum O-glycans in Sialuria patients. HPLC showed an increased ratio of disialylated over monosialylated core 1 O-glycans. The hypersialylation of core 1 O-glycans is due to the increase of NeuAcalpha2,6-containing structures (mainly NeuAcalpha2-3Galbeta1-3[NeuAcalpha2-6]GalNAc). This may relate to KM differences between GalNAc-alpha2,6-sialyltransferase and alpha2,3-sialyltransferases. This is the first study demonstrating that the genetic defect in Sialuria results in a CMP-NeuAc overproduction. Subsequently, increased amounts of alpha2,6-linked NeuAc were found on serum core 1 O-glycans from Sialuria patients. N-glycosylation of serum proteins seems largely unaffected. Sialuria is the first metabolic disorder presenting with hypersialylated O-glycans.  (+info)

Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells. (8/17)

Sialylation (e.g. expression of sialic acid) plays a crucial role for function and stability of most glycoproteins. The key enzyme for the biosynthesis of sialic acid is the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine-kinase (GNE). Mutations in the binding site of the feedback inhibitor CMP-sialic acid of the GNE leads to sialuria, a disease in which patients produce sialic acid in gram scale. Here, we report on the use in biotechnology of sialuria-mutated GNE. Expression of the sialuria-mutated GNE in CHO-cells leads to increased sialylation of recombinant expressed erythropoietin (EPO). Our data show that sialuria-mutated-GNE over-expressing cells are the perfect platform to express highly sialylated therapeutic proteins, such as EPO.  (+info)

Sialic Acid Storage Disease is a rare genetic disorder that affects the metabolism of sialic acids, which are sugars found on the surface of cells. There are two main types: Sialic acid storage disease type I (SASD I), also known as Sialidosis, and Sialic Acid Storage Disease type II (SASD II), also known as galactosialidosis.

In SASD I, there is a deficiency of the enzyme sialidase, which leads to an accumulation of sialic acids in various tissues and organs, including the brain, liver, and eyes. This can result in a range of symptoms, such as coarse facial features, intellectual disability, developmental delay, seizures, cherry-red spots on the retina, and problems with movement and coordination.

In SASD II, there is a deficiency of two enzymes: sialidase and cathepsin A. This results in an accumulation of both sialic acids and glycoproteins in various tissues and organs, leading to symptoms similar to those seen in SASD I, as well as additional features such as hearing loss, heart problems, and weakened bones.

Both forms of Sialic Acid Storage Disease are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. Treatment is generally supportive and may include physical therapy, medications to manage symptoms, and dietary modifications. In some cases, enzyme replacement therapy or bone marrow transplantation may be considered as treatment options.

Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders caused by defects in lysosomal function. Lysosomes are membrane-bound organelles within cells that contain enzymes responsible for breaking down and recycling various biomolecules, such as proteins, lipids, and carbohydrates. In LSDs, the absence or deficiency of specific lysosomal enzymes leads to the accumulation of undigested substrates within the lysosomes, resulting in cellular dysfunction and organ damage.

These disorders can affect various organs and systems in the body, including the brain, nervous system, bones, skin, and visceral organs. Symptoms may include developmental delays, neurological impairment, motor dysfunction, bone abnormalities, coarse facial features, hepatosplenomegaly (enlarged liver and spleen), and recurrent infections.

Examples of LSDs include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, Pompe disease, and mucopolysaccharidoses (MPS). Treatment options for LSDs may include enzyme replacement therapy, substrate reduction therapy, or bone marrow transplantation. Early diagnosis and intervention can help improve the prognosis and quality of life for affected individuals.

Inborn errors of carbohydrate metabolism refer to genetic disorders that affect the body's ability to break down and process carbohydrates, which are sugars and starches that provide energy for the body. These disorders are caused by defects in enzymes or transport proteins that play a critical role in the metabolic pathways involved in carbohydrate metabolism.

There are several types of inborn errors of carbohydrate metabolism, including:

1. Galactosemia: This disorder affects the body's ability to metabolize the sugar galactose, which is found in milk and other dairy products. It is caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase.
2. Glycogen storage diseases: These disorders affect the body's ability to store and break down glycogen, which is a complex carbohydrate that serves as a source of energy for the body. There are several types of glycogen storage diseases, each caused by a deficiency in a different enzyme involved in glycogen metabolism.
3. Hereditary fructose intolerance: This disorder affects the body's ability to metabolize the sugar fructose, which is found in fruits and sweeteners. It is caused by a deficiency of the enzyme aldolase B.
4. Pentose phosphate pathway disorders: These disorders affect the body's ability to metabolize certain sugars and generate energy through the pentose phosphate pathway. They are caused by defects in enzymes involved in this pathway.

Symptoms of inborn errors of carbohydrate metabolism can vary widely depending on the specific disorder and its severity. Treatment typically involves dietary restrictions, supplementation with necessary enzymes or cofactors, and management of complications. In some cases, enzyme replacement therapy or even organ transplantation may be considered.

N-Acetylneuraminic Acid (Neu5Ac) is an organic compound that belongs to the family of sialic acids. It is a common terminal sugar found on many glycoproteins and glycolipids on the surface of animal cells. Neu5Ac plays crucial roles in various biological processes, including cell recognition, signaling, and intercellular interactions. It is also involved in the protection against pathogens by serving as a barrier to prevent their attachment to host cells. Additionally, Neu5Ac has been implicated in several disease conditions, such as cancer and inflammation, due to its altered expression and metabolism.

Sialic acids are a family of nine-carbon sugars that are commonly found on the outermost surface of many cell types, particularly on the glycoconjugates of mucins in various secretions and on the glycoproteins and glycolipids of cell membranes. They play important roles in a variety of biological processes, including cell recognition, immune response, and viral and bacterial infectivity. Sialic acids can exist in different forms, with N-acetylneuraminic acid being the most common one in humans.

Lysosomes are membrane-bound organelles found in the cytoplasm of eukaryotic cells. They are responsible for breaking down and recycling various materials, such as waste products, foreign substances, and damaged cellular components, through a process called autophagy or phagocytosis. Lysosomes contain hydrolytic enzymes that can break down biomolecules like proteins, nucleic acids, lipids, and carbohydrates into their basic building blocks, which can then be reused by the cell. They play a crucial role in maintaining cellular homeostasis and are often referred to as the "garbage disposal system" of the cell.

Organic anion transporters (OATs) are membrane transport proteins that are responsible for the cellular uptake and excretion of various organic anions, such as drugs, toxins, and endogenous metabolites. They are found in various tissues, including the kidney, liver, and brain, where they play important roles in the elimination and detoxification of xenobiotics and endogenous compounds.

In the kidney, OATs are located in the basolateral membrane of renal tubular epithelial cells and mediate the uptake of organic anions from the blood into the cells. From there, the anions can be further transported into the urine by other transporters located in the apical membrane. In the liver, OATs are expressed in the sinusoidal membrane of hepatocytes and facilitate the uptake of organic anions from the blood into the liver cells for metabolism and excretion.

There are several isoforms of OATs that have been identified, each with distinct substrate specificities and tissue distributions. Mutations in OAT genes can lead to various diseases, including renal tubular acidosis, hypercalciuria, and drug toxicity. Therefore, understanding the function and regulation of OATs is important for developing strategies to improve drug delivery and reduce adverse drug reactions.

Glycogen Storage Disease Type I (GSD I) is a rare inherited metabolic disorder caused by deficiency of the enzyme glucose-6-phosphatase, which is necessary for the liver to release glucose into the bloodstream. This leads to an accumulation of glycogen in the liver and abnormally low levels of glucose in the blood (hypoglycemia).

There are two main subtypes of GSD I: Type Ia and Type Ib. In Type Ia, there is a deficiency of both glucose-6-phosphatase enzyme activity in the liver, kidney, and intestine, leading to hepatomegaly (enlarged liver), hypoglycemia, lactic acidosis, hyperlipidemia, and growth retardation. Type Ib is characterized by a deficiency of glucose-6-phosphatase enzyme activity only in the neutrophils, leading to recurrent bacterial infections.

GSD I requires lifelong management with frequent feedings, high-carbohydrate diet, and avoidance of fasting to prevent hypoglycemia. In some cases, treatment with continuous cornstarch infusions or liver transplantation may be necessary.

Glycogen storage disease (GSD) is a group of rare inherited metabolic disorders that affect the body's ability to break down and store glycogen, a complex carbohydrate that serves as the primary form of energy storage in the body. These diseases are caused by deficiencies or dysfunction in enzymes involved in the synthesis, degradation, or transport of glycogen within cells.

There are several types of GSDs, each with distinct clinical presentations and affected organs. The most common type is von Gierke disease (GSD I), which primarily affects the liver and kidneys. Other types include Pompe disease (GSD II), McArdle disease (GSD V), Cori disease (GSD III), Andersen disease (GSD IV), and others.

Symptoms of GSDs can vary widely depending on the specific type, but may include:

* Hypoglycemia (low blood sugar)
* Growth retardation
* Hepatomegaly (enlarged liver)
* Muscle weakness and cramping
* Cardiomyopathy (heart muscle disease)
* Respiratory distress
* Developmental delays

Treatment for GSDs typically involves dietary management, such as frequent feedings or a high-protein, low-carbohydrate diet. In some cases, enzyme replacement therapy may be used to manage symptoms. The prognosis for individuals with GSDs depends on the specific type and severity of the disorder.

In the context of medical research, authorship refers to the recognition of individuals who have made significant contributions to the development and completion of a scientific paper or research project. The International Committee of Medical Journal Editors (ICMJE) has established guidelines for determining authorship, which include the following four criteria:

1. Substantial contribution to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work.
2. Drafting the work or revising it critically for important intellectual content.
3. Final approval of the version to be published.
4. Agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

All authors should meet these criteria, and their contributions should be clearly described in the manuscript. It is important to note that authorship should not be granted based on position or status alone, but rather on the basis of substantial intellectual contribution and commitment to the work.

Carboxylic acids are organic compounds that contain a carboxyl group, which is a functional group made up of a carbon atom doubly bonded to an oxygen atom and single bonded to a hydroxyl group. The general formula for a carboxylic acid is R-COOH, where R represents the rest of the molecule.

Carboxylic acids can be found in various natural sources such as in fruits, vegetables, and animal products. Some common examples of carboxylic acids include formic acid (HCOOH), acetic acid (CH3COOH), propionic acid (C2H5COOH), and butyric acid (C3H7COOH).

Carboxylic acids have a variety of uses in industry, including as food additives, pharmaceuticals, and industrial chemicals. They are also important intermediates in the synthesis of other organic compounds. In the body, carboxylic acids play important roles in metabolism and energy production.

I'm sorry for any confusion, but "knowledge bases" is a general term that refers to structured collections of knowledge in a specific field or area, and it is not a medical term with a defined meaning in the medical field. Knowledge bases can be found in many fields, including medicine, and they typically take the form of databases or repositories of information that are used to store, organize, and retrieve knowledge. In the medical field, knowledge bases might include information about diseases, treatments, medications, and other medical topics. They can be used by healthcare professionals, researchers, and patients to access accurate and reliable information.

Editorial policies refer to a set of guidelines and principles that govern the development, selection, peer-review, production, and publication of manuscripts in a medical journal. These policies aim to ensure the integrity, transparency, and quality of the published research while adhering to ethical standards and best practices in scientific publishing.

Some essential components of editorial policies include:

1. Authorship criteria: Defining who qualifies as an author, their roles, and responsibilities, and specifying the order of authorship based on contribution.
2. Conflict of interest disclosure: Requiring authors, reviewers, and editors to declare any potential conflicts of interest that may influence their judgment or objectivity in the manuscript's evaluation.
3. Peer-review process: Outlining the steps involved in the peer-review process, including the selection of reviewers, the number of required reviews, and the criteria for accepting or rejecting a manuscript.
4. Plagiarism detection: Employing plagiarism detection software to ensure originality and prevent unethical practices such as self-plagiarism or duplicate publication.
5. Data sharing: Encouraging or requiring authors to share their data, code, or materials to promote transparency and reproducibility of the research findings.
6. Corrections and retractions: Establishing procedures for correcting errors, addressing scientific misconduct, and retracting published articles when necessary.
7. Post-publication discussions: Encouraging open dialogue and constructive criticism through post-publication discussions or letters to the editor.
8. Accessibility and copyright: Describing how the journal ensures accessibility of its content, such as through open-access models, and outlining the terms of copyright and licensing agreements.
9. Archiving and preservation: Ensuring long-term preservation and availability of published content by depositing it in appropriate digital archives or repositories.
10. Compliance with international standards: Adhering to guidelines and best practices established by organizations such as the International Committee of Medical Journal Editors (ICMJE), the World Association of Medical Editors (WAME), and the Committee on Publication Ethics (COPE).

Scientific misconduct is defined by the US Department of Health and Human Services as "fabrication, falsification, or plagiarism in proposing, performing, or reviewing research, or in reporting research results." Fabrication means making up data or results that never occurred. Falsification means manipulating research materials, equipment, or processes, or changing or omitting data or results such that the research is not accurately represented in the research record. Plagiarism is the appropriation of another person's ideas, processes, results, or words without giving appropriate credit.

Scientific misconduct also includes other practices that seriously deviate from those that are commonly accepted within the scientific community for proposing, conducting, or reporting research. It does not include honest error or differences of opinion.

It is important to note that scientific misconduct can have serious consequences for the individuals involved and for the integrity of the scientific enterprise as a whole. It is essential that researchers adhere to the highest standards of integrity in order to maintain public trust in science and to ensure that research results are reliable and reproducible.

I'm sorry for any confusion, but "publishing" is not a term that has a medical definition. Publishing typically refers to the process of preparing and disseminating information, such as books, journals, or articles, to the public or a specific audience. It could involve both print and digital media. If you have any questions related to medicine or healthcare, I'd be happy to try to help answer those!

Cyclic amino acids are a type of modified amino acid where the side chain of the amino acid forms a ring structure. This is different from the typical structure of amino acids, which have a linear side chain. The formation of the ring can occur within the same amino acid molecule or between two amino acid molecules.

Cyclic amino acids play important roles in various biological processes. For example, some cyclic amino acids are involved in the structure and function of proteins, while others serve as signaling molecules or neurotransmitters. Some common examples of cyclic amino acids include proline, hydroxyproline, and sarcosine.

It is worth noting that not all modified amino acids with ring structures are considered cyclic amino acids. For example, some amino acids may have a sulfur atom in their side chain that forms a disulfide bond with another cysteine residue, but this is not considered a cyclic structure because the ring is formed between two separate molecules rather than within a single molecule.

I apologize for any confusion, but "students" is not a medical term. It refers to individuals who are engaged in studying or learning at an educational institution, such as a school, college, or university. If you have any questions related to medical terminology or concepts, I would be happy to help clarify those for you.

The term "Faculty, Medical" generally refers to the faculty members who are involved in medical education and training within a medical school or academic institution. These individuals are responsible for teaching and instructing medical students, residents, and fellows in various areas of medical knowledge and clinical skills. They may hold positions such as professor, associate professor, assistant professor, or instructor, and they may specialize in a particular area of medicine such as internal medicine, surgery, pediatrics, or psychiatry. Medical faculty members may also be involved in research, patient care, and administrative duties within the institution.

In a medical context, "faculty" most commonly refers to the inherent abilities or powers of a normal functioning part of the body or mind. For example, one might speak of the "faculties of perception" to describe the senses of sight, hearing, touch, taste, and smell. It can also refer to the teaching staff or body of instructors at a medical school or other educational institution. Additionally, it can be used more generally to mean a capability or skill, as in "the faculty of quick thinking."

I'm assuming you are asking for a definition of "medical students." Here it is:

Medical students are individuals who are enrolled in a program of study to become medical doctors. They typically complete four years of undergraduate education before entering a medical school, where they spend another four years studying basic sciences and clinical medicine. After completing medical school, they become physicians (M.D.) and continue their training through residency programs in their chosen specialties. Some medical students may choose to pursue a research career and complete a Ph.D. during or after medical school.

Research, in the context of medicine, is a systematic and rigorous process of collecting, analyzing, and interpreting information in order to increase our understanding, develop new knowledge, or evaluate current practices and interventions. It can involve various methodologies such as observational studies, experiments, surveys, or literature reviews. The goal of medical research is to advance health care by identifying new treatments, improving diagnostic techniques, and developing prevention strategies. Medical research is typically conducted by teams of researchers including clinicians, scientists, and other healthcare professionals. It is subject to ethical guidelines and regulations to ensure that it is conducted responsibly and with the best interests of patients in mind.

Mechlorethamine is an antineoplastic agent, which means it is used to treat cancer. It is a type of alkylating agent, which is a class of drugs that work by interfering with the DNA of cancer cells, preventing them from dividing and growing. Mechlorethamine is used in the treatment of Hodgkin's lymphoma and non-Hodgkin's lymphoma, as well as some other types of cancer. It can be administered intravenously or topically (as a cream) to treat skin lesions caused by certain types of cancer.

Mechlorethamine is a potent drug that can have significant side effects, including nausea, vomiting, hair loss, and an increased risk of infection due to suppression of the immune system. It can also cause damage to the heart, lungs, and reproductive system with long-term use. As with all chemotherapy drugs, mechlorethamine should be administered under the close supervision of a healthcare professional.

In the context of medicine, "publications" typically refers to the dissemination of research findings or other medical information through various forms of media. This can include:

1. Peer-reviewed journals: These are scientific or medical publications that undergo a rigorous review process by experts in the field before they are accepted for publication. They represent some of the most reliable sources of medical information.

2. Conference proceedings: Medical conferences often publish abstracts, presentations, or posters from the event. These can provide early insights into ongoing research and new developments in the field.

3. Books and book chapters: Medical texts and reference books are a common form of publication, offering comprehensive overviews of specific topics or conditions.

4. Online platforms: Websites, blogs, and social media platforms have become increasingly popular ways to share medical information. While these can be valuable resources, it's important to critically evaluate the quality and reliability of the information presented.

5. News articles and press releases: Media outlets may report on new medical research or developments, although these should also be approached with caution as they may not always accurately represent the findings or context of the original research.

It's worth noting that all publications should be evaluated based on their source, methodology, and relevance to the specific question or issue at hand.

... (ISSD) is a lysosomal storage disease. ISSD occurs when sialic acid is unable to be ... INFANTILE SIALIC ACID STORAGE DISEASE; ISSD". omim.org. Retrieved 2017-05-27. GeneReviews/NCBI/NIH/UW entry on Free Sialic Acid ... gene cause all forms of sialic acid storage disease. The SLC17A5 gene is located on the long (q) arm of chromosome 6 between ... ISSD is the most severe form of the sialic acid storage diseases. Babies with this condition have severe developmental delay, ...
"Salla disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". "Free sialic acid storage disease". ... Ajit, Varki (2017). "Sialic Acids and Other Nonulosonic Acids". Sialic acids and other nonulosonic acids." Essentials of ... Ajit, Varki (2015). "Sialic Acids and Other Nonulosonic Acids". Sialic acids and other nonulosonic acids, Essentials of ... turning sialic acid into cytidine monophosphate-sialic acid (CMP-sialic acid). This compound is synthesized in the nucleus of ...
A deficiency of this protein causes Salla disease. and Infantile Sialic Acid Storage Disease (ISSD). The gene for HP59 contains ... 2004). "Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs". Am. J. Med. Genet. A. 120 ... 1995). "Infantile sialic acid storage disease: biochemical studies". Am. J. Med. Genet. 58 (1): 24-31. doi:10.1002/ajmg. ... 1994). "The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6". Am. J. Hum. Genet. 54 (6 ...
Individuals with Salla disease usually survive into adulthood. Infantile free sialic acid storage disease (ISSD) Online ... sialic acid), out of lysosomes. The mutation causes sialic acid to build up in the cells.[citation needed] The disease is ... Strehle EM (2003). "Sialic acid storage disease and related disorders". Genet Test. 7 (2): 113-121. doi:10.1089/ ... and molecular diagnosis of a free sialic acid storage disease patient of moderate severity". Mol Genet Metab. 82 (2): 137-143. ...
Aula P., Gahl W.A. Sialic Acid Storage Diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein ... and sialic acid diseases. Gahl was the leader in creating the National Institutes of Health Undiagnosed Diseases Program (UDP ... Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N- ... "Rare and Undiagnosed Disease Program: Mayo Clinic Radio". YouTube. Mayo Clinic. 13 November 2017. Archived from the original on ...
... is mutated in sialic acid storage diseases". Nature Genetics. 23 (4): 462-5. doi:10.1038/70585. PMID 10581036. S2CID 5709302. ... and glucose storage diseases. Disease associated mutations have been found in a number of human MFS transporters; those ... mutated in glycogen storage disease type Ib". FEBS Letters. 419 (2-3): 235-8. doi:10.1016/s0014-5793(97)01463-4. PMID 9428641. ... "Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease". Neurobiology of Disease. 65: 12-24. doi: ...
... is mutated in sialic acid storage diseases". Nature Genetics. 23 (4): 462-65. doi:10.1038/70585. PMID 10581036. S2CID 5709302. ... "The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6". American Journal of Human ... Prolo LM, Vogel H, Reimer RJ (2009). "The lysosomal sialic acid transporter sialin is required for normal CNS myelination". J. ... also known asSLC17A5 or sialin is a lysosomal membrane sialic acid transport protein which in humans is encoded by the SLC17A5 ...
... sialic acid storage disease MeSH C10.228.140.163.100.435.825 - sphingolipidoses MeSH C10.228.140.163.100.435.825.200 - fabry ... leigh disease MeSH C10.228.140.163.100.425 - lesch-nyhan syndrome MeSH C10.228.140.163.100.435 - lysosomal storage diseases, ... lewy body disease MeSH C10.228.140.079.862.500 - parkinson disease MeSH C10.228.140.079.862.800 - parkinson disease, secondary ... lewy body disease MeSH C10.228.662.600.400 - parkinson disease MeSH C10.228.662.600.700 - parkinson disease, secondary MeSH ...
... sialic acid storage disease Infantile free sialic acid storage disease Glycogen storage diseases Type II Pompe disease Type IIb ... Danon disease Other Cholesteryl ester storage disease Lysosomal disease The symptoms of lysosomal storage diseases vary ... Pompe disease was the first disease to be identified as an lysosomal storage disease in 1963, with L. Hers reporting the cause ... Lysosomal storage diseases include: Sphingolipidoses Ceramidase Farber disease Krabbe disease Infantile onset Late onset ...
... sialic acid storage disease MeSH C18.452.100.100.435.825 - sphingolipidoses MeSH C18.452.100.100.435.825.200 - fabry disease ... sialic acid storage disease MeSH C18.452.648.151.435.825 - sphingolipidoses MeSH C18.452.648.151.435.825.200 - Fabry disease ... sialic acid storage disease MeSH C18.452.648.595.554.825 - sphingolipidoses MeSH C18.452.648.595.554.825.200 - Fabry disease ... glycogen storage disease type I MeSH C18.452.648.202.449.500 - glycogen storage disease type II MeSH C18.452.648.202.449.510 - ...
... syndrome FRAXA syndrome FRAXD FRAXE syndrome Free sialic acid storage disease Freeman-Sheldon syndrome Freiberg's disease ... This is a list of diseases starting with the letter "F". Diseases Alphabetical list 0-9 A B C D E F G H I J K L M N O P Q R S T ... congenital Factor XIII deficiency Fahr's disease Fairbank disease Fallot tetralogy Familial a - Familial i Familial ALS ... Fontaine-Farriaux-Blanckaert syndrome Forbes-Albright syndrome Forbes disease Foreign accent syndrome Forestier's disease ...
Hypomelanosis of Ito I cell disease Immunodeficiency due to defect in MAPBP-interacting protein Infantile sialic acid storage ... with mental retardation basal ganglia disease and seizures) Dyggve-Melchior-Clausen syndrome Fucosidosis type 1 Fucosidosis ...
Infantile onset spinocerebellar ataxia Infantile recurrent chronic multifocal osteomyolitis Infantile sialic acid storage ... This is a list of diseases starting with the letter "I". Diseases Alphabetical list 0-9 A B C D E F G H I J K L M N O P Q R S T ... type A Intercellular cholesterol esterification disease Interferon gamma, receptor 1, deficiency Internal carotid agenesis ... familial Infantile digital fibromatosis Infantile dysphagia Infantile multisystem inflammatory disease Infantile ...
... sialic acid storage disease MeSH C16.320.565.150.435.825 - sphingolipidoses MeSH C16.320.565.150.435.825.200 - Fabry disease ... sialic acid storage disease MeSH C16.320.565.580.554.825 - sphingolipidoses MeSH C16.320.565.580.554.825.200 - Fabry disease ... glycogen storage disease type I MeSH C16.320.565.202.449.500 - glycogen storage disease type II MeSH C16.320.565.202.449.510 - ... glycogen storage disease type IV MeSH C16.320.565.202.449.560 - glycogen storage disease type V MeSH C16.320.565.202.449.580 - ...
Thus, engineering of these N-glyans, such as by modification of branching patterns, sialic acid capping, M6P tagging, ... This has been of particular interest in the development of therapeutics for lysosomal storage disease. Proper delivery of these ... strategies for the development of therapeutic enzymes with improved efficacy for the treatment of lysosomal storage diseases". ... This technique has been proposed as a potential treatment for numerous bone diseases, including osteogenesis imperfecta. Other ...
The protein SIALIDASE-1 encoded by the NEU-1 gene encodes the lysosomal enzyme SIALIDASE-1, which cleaves terminal sialic acid ... Mutations in NEU1 leads to sialidosis, a rare lysosomal storage disease. Sialidase has also been shown to enhance recovery from ... "Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis". ...
Tamiflu is a carbocyclic mimic of the cell-surface carbohydrate sialic acid. Tamiflu is an enzyme inhibitor that blocks the ... Miglustat a drug used to treat some rare lysosomal storage disorder diseases. Carbohydrate Research Volume 342, Issues 12-13, ... either by Coulombic interaction with carboxylate amino acid side-chains in the enzyme active site, or by mimicking positive- ...
In corn (Zea mays), Glb1 is a gene coding for the storage protein globulin. GM1-gangliosidosis is a lysosomal storage disease ... and the elastin receptor complex to influence cell proliferation appears to be indirect and involve removal of sialic acid from ... The alternative 2.0-kb mRNA encodes a beta-galactosidase-related protein (S-Gal) that is only 546 amino acids long and that has ... Callahan JW (Oct 1999). "Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of ...
It is one of two proteins present in the viral envelope and catalyzes the cleavage of sialic acid moieties from cell-membrane ... This disease causes increased concentrations of low-density lipoprotein (LDL) and cholesterol which can lead to further ... Phytases are phosphatases that can hydrolyze the ester bonds of phytate, the major form of phosphate storage in plants. Through ... Familial hypercholesterolemia is a human genetic disease caused by mutations to the gene that encodes low density lipoprotein ...
... or lipid storage diseases). His research helped to establish the cause of Niemann-Pick's lipidosis as the storage of large ... Blix, F. G.; Gottschalk, A.; Klenk, E. (1957). "Proposed Nomenclature in the Field of Neuraminic and Sialic Acids". Nature. 179 ... He succeeded in classifying many polyenoic acids as 4 basic acid types: palmitoleic, oleic, linoleic,or α-linolenic. His ... builds up pathologically in the cells of victims of Tay-Sachs disease.) Klenk discovered that N-acetylneuraminic acid is a ...
Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N - ... The role of sialidase is to remove a particular form of sialic acid (a sugar molecule) from sugar-protein complexes (referred ... Other diseases that result from a deficiency in the sialidase enzyme are categorized in a broader group known as sialidoses. ... 2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 538. ISBN 978-0808923510. Shahwan, Amre; ...
In serum resistant virulent strains, outer membrane proteins such as a sialic acid-modified lipooligosaccharide (LOS) and ... The general term for diseases caused by Histophilus somni is called Histophilosis; Disease mainly affects cattle but can affect ... The best storage method for samples to stay viable is for deep freezing below -60 degrees Celsius. The best way to identify H. ... it is important to attempt it because bovine r disease is a production limiting disease and is reportable for domestic and ...
However, sulfatide receptors have no sialic acid, which has been shown to play a necessary role as a virus receptor that ... Accumulation of sulfatide can cause metachromatic leukodystrophy, a lysosomal storage disease and may be caused because of a ... In Alzheimer's disease, sulfatide in the brain tissue decreases tremendously, starting in the early stages of the disease. In ... When comparing sulfatide depletion to other neurodegenerative diseases, Alzheimer's disease is the only case in which sulfatide ...
... carboxylic acid and deoxy modifications (e.g. fucose and sialic acid). Natural saccharides are generally built of simple ... In many animals, including humans, this storage form is glycogen, especially in liver and muscle cells. In plants, starch is ... August 2017). "Whole grain cereals for the primary or secondary prevention of cardiovascular disease" (PDF). The Cochrane ... Byrne CS, Chambers ES, Morrison DJ, Frost G (September 2015). "The role of short chain fatty acids in appetite regulation and ...
... glucuronic acid (GlcA), iduronic acid (IdoA), N-acetylgalactosamine (GalNAc), sialic acid, and 5-N-acetylneuraminic acid ( ... Ero1 Female sperm storage Glycocalyx Glycome Glycopeptide Gp120 Gp41 Miraculin P-glycoprotein Proteoglycan Ribophorin Glycan ... By understanding glycoproteins and their synthesis, they can be made to treat cancer, Crohn's Disease, high cholesterol, and ... An O-linked glycoprotein is where the sugar is bonded to an oxygen atom of a serine or threonine amino acid in the protein. ...
... with frequent visits and collaborative work on sialic acids at the Biochemisches Institut at Christian Albrechts Universitat in ... From 1988 to 1992, he worked at the Laboratory of Infectious Diseases of the DNAX Research Institute of Molecular and Cellular ... Howard, Russell; Grant, Bruce; Fock, Heinrich (28 June 2008). "Storage and structural products formed during photosynthesis in ... Maxygen and Astellas Announce Global Agreement to Develop New Therapies for Autoimmune Diseases and Transplantation. "Kinghorn ...
SBDS Sialic acid storage disorder, infantile; 269920; SLC17A5 Sialidosis, type I; 256550; NEU1 Sialidosis, type II; 256550; ... AGL Glycogen storage disease IV; 232500; GBE1 Glycogen storage disease IXc; 613027; PHKG2 Glycogen storage disease of heart, ... PFKM Glycogen storage disease X; 261670; PGAM2 Glycogen storage disease XI; 612933; LDHA Glycogen storage disease XII; 611881; ... ENO3 Glycogen storage disease XIV; 612934; PGM1 Glycogen storage disease XV; 613507; GYG1 Glycogen storage disease type 0; ...
A disease-associated mutant α-actinin-4 reveals a novel mechanism for regulating its F-actin binding affinity. 2007. PNAS, 104 ... Storage of platelets in the cold. US Patent Number 5,358,844, issued October 25, 1994. European patent Number 684762, issued ... Prolonging survival of platelets using CMP-sialic, UDPgalactose or both. US Patent Number 8221745, issued July 1, 2012. 10. ... Modifications of cellular responses to lysophosphatidic acid (LPA) and platelet activating factor (PAF) by plasma gelsolin ( ...
... rich in sialic acid), and a pore-forming toxin, β-haemolysin. The GBS capsule is probably the key virulence factor because it ... Centers for Disease Control and Prevention- CDC, MMWR (2002). "Prevention of Perinatal Group B Streptococcal Disease Revised ... Rosa-Fraile M, Camacho-Muñoz E, Rodríguez-Granger J, Liébana-Martos C (February 2005). "Specimen storage in transport medium ... GBS infections in newborns are separated into two clinical types, early-onset disease (GBS-EOD) and late-onset disease (GBS-LOD ...
Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease. ISSD occurs when sialic acid is unable to be ... INFANTILE SIALIC ACID STORAGE DISEASE; ISSD". omim.org. Retrieved 2017-05-27. GeneReviews/NCBI/NIH/UW entry on Free Sialic Acid ... gene cause all forms of sialic acid storage disease. The SLC17A5 gene is located on the long (q) arm of chromosome 6 between ... ISSD is the most severe form of the sialic acid storage diseases. Babies with this condition have severe developmental delay, ...
Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. Explore symptoms, inheritance, ... medlineplus.gov/genetics/condition/sialic-acid-storage-disease/ Sialic acid storage disease. ... Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage ... Salla disease is a less severe form of sialic acid storage disease. Babies with Salla disease usually begin exhibiting ...
... to sialic acid storage disease.. What is Sialic Acid Storage Disease?. The term sialic acid includes derivatives of neuraminic ... Sialic acid storage disease cannot be prevented.. When should you go to the doctor?. Sialic acid storage disease usually always ... As a rule, self-healing cannot occur in the case of sialic acid storage disease. Most patients with sialic acid storage disease ... Diagnosis & course of disease. In people affected by sialic acid storage disease, an increased concentration of sialic acid in ...
Diagnosis of free sialic acid storage disease was based on clinical findings, histology, and biochemical assays of sialic acid ... Diagnosis of free sialic acid storage disease was based on clinical findings, histology, and biochemical assays of sialic acid ... Diagnosis of free sialic acid storage disease was based on clinical findings, histology, and biochemical assays of sialic acid ... Diagnosis of free sialic acid storage disease was based on clinical findings, histology, and biochemical assays of sialic acid ...
Sialic acid storage disease: MedlinePlus Genetics (National Library of Medicine) * Succinic semialdehyde dehydrogenase ... Alpers Disease (National Institute of Neurological Disorders and Stroke) * Batten Disease (National Institute of Neurological ... Moyamoya Disease (National Institute of Neurological Disorders and Stroke) * Niemann-Pick Disease (National Institute of ... Menkes disease (Medical Encyclopedia) Also in Spanish * Neuronal ceroid lipofuscinoses (NCL) (Medical Encyclopedia) Also in ...
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. Blom, H.J., ... Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. Mancini, G.M., Beerens, C.E., ... and other acidic monosaccharides in fibroblasts from patients with infantile free sialic acid storage disease (ISSD) and Salla ... The glucuronic acid phosphate might be derived from uridine pyrophosphoglucuronic acid, whose glucuronic acid moiety is ...
COPD stands for chronic obstructive pulmonary disease and is a chronic lung condition. Learn the definition, types, causes, ... Genetic problems such as Salla disease (an autosomal recessive disorder of sialic acid storage in the body) ... www.lung.org/lung-health-and-diseases/lung-disease-lookup/copd/,.. Kleinschmidt, P. "Chronic Obstructive Pulmonary Disease ( ... Chronic obstructive pulmonary disease is a slowly progressive disease so it is not unusual for initial signs and symptoms to be ...
Sialic acid storage disease (Salla disease; sialic acid transporter deficiency): Clinical features include hypotonia, ... Glycogen Storage Disease Type II. Glycogen storage disease type II, or acid alpha-glucosidase (acid maltase) deficiency, is an ... acid lipase deficiency, mild form cholesterol ester storage disease) (See Wolman Disease and Cholesteryl Ester Storage Disease ... Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. Am J Med Genet. ...
lysosomal storage diseases *free sialic acid storage disorders (e.g. Salla disease) ... Krabbe disease, also known as globoid cell leukodystrophy, is an autosomal recessive lysosomal storage disorder resulting in ... Krabbe disease can be divided according to the age of onset into two or three forms depending on the author 2,3,5:. *. ... Krabbe disease is caused by mutations in the GALC gene (mapped to chromosome 14q) which encodes galactocerebrosidase, an enzyme ...
I-cell disease/mucolipidosis II. *infantile free sialic acid storage disease. *juvenile hexosaminidase A deficiency ... Niemann-Pick disease (NPD) is actually a collection of a number of distinct autosomal recessive lysosomal storage diseases. ... deficiency of acid sphingomyelinase 1,3,4 * Niemann-Pick disease type A (NPD-A) *severe hepatosplenomegaly in infancy ... Niemann-Pick disease type C (NPD-C) *pronounced CNS involvement with atrophy or white matter T2 signal increase on MRI 1 ...
Learn more about the genetics of Salla disease. Visit 23andMe.com for important test information. ... 2003). "Free Sialic Acid Storage Disorders." [Updated 2013 Jun 06].. MedlinePlus. "Sialic acid storage disease." Retrieved Jun ... What is Salla disease?. Salla disease (also known as free sialic acid storage disease) is a rare genetic disorder. It is ... This results in a harmful buildup of sialic acid. What are the symptoms of Salla disease?. Symptoms of Salla disease include ...
Prenatal hydrops foetalis associated with infantile free sialic acid storage disease. Journal of obstetrics and gynaecology ... REMOVAL OF SIALIC-ACID FROM A GLYCOPROTEIN IN CHO CELL-CULTURE SUPERNATANT BY ACTION OF AN EXTRACELLULAR CHO CELL SIALIDASE BIO ... The extracellular sialidase is active toward a variety of CHO cell-produced glycoproteins, and can hydrolyze sialic acid from ... Ductus arteriosus and the preterm brain. Archives of disease in childhood. Fetal and neonatal edition Chock, V. Y., Bhombal, S ...
Infantile Sialic Acid Storage Disease. Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes. OMIM:269920. ... Human diseases predicted to be associated with Abhd10 (382 diseases) No human diseases associated to this gene by orthology or ... Human diseases caused by Abhd10 mutations The analysis uses data from IMPC, along with published data on other mouse mutants, ... Decreased serum bile acid concentration, Hyperbilirubinemia. OMIM:214950. Congenital Hypothyroidism Due To Transplacental ...
... the current definition of COPD put forth by the Global Initiative for Chronic Obstructive Lung Disease (GOLD) also no longer ... Emphysema and chronic bronchitis are airflow-limited states contained within the disease state known as chronic obstructive ... pulmonary disease (COPD). Just as asthma is no longer grouped with COPD, ... the disease is characterized by intralysosomal accumulation of sialic acid in various tissues. The most important clinical ...
9. Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease ...
From NCATS Genetic and Rare Diseases Information Center. * Infantile free sialic acid storage disease From NCATS Genetic and ... Free Sialic Acid Storage Disease Whats New Last Posted: Jan 01, 2011 * Free sialic acid storage disease ... Selected Rare Diseases. Browse full list of rare diseases A-Z *Alpha-1 Antitrypsin Deficiency ... Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it ...
Infantile Sialic Acid Storage Disease. Cardiomegaly, Hepatomegaly, Splenomegaly, Hydrocephalus. OMIM:269920. Citrullinemia Type ... Human diseases predicted to be associated with Rbl2 (216 diseases) The table below shows human diseases associated to Rbl2 by ... Human diseases caused by Rbl2 mutations The analysis uses data from IMPC, along with published data on other mouse mutants, in ... The table below shows human diseases predicted to be associated to Rbl2 by phenotypic similarity. ...
Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The ... prenatal diagnosis of a sialic acid storage disease (index case). Prenat Diagn. 1995, 15: 864-867. 10.1002/pd.1970150913. ... a rare presentation of sialic acid storage disease. Genet Couns. 1999, 10: 277-284. ... Most of these are lysosomal storage diseases. Today, around 14 different lysosomal storage diseases (LSD) have been reported as ...
Infantile Sialic Acid Storage Disease. Conjugated hyperbilirubinemia. OMIM:269920. Hemolytic Anemia, Nonspherocytic, Due To ... Human diseases predicted to be associated with Rhbdl1 (167 diseases) No human diseases associated to this gene by orthology or ... Human diseases caused by Rhbdl1 mutations The analysis uses data from IMPC, along with published data on other mouse mutants, ... Increased serum bile acid concentration, Hyperbilirubinemia. ORPHA:69665. Mitochondrial Dna Depletion Syndrome 3 ( ...
SLC17A5:Free sialic acid storage disease. *FUCA1: Fucosidosis. *GALT: Galactosemia. *RARS: RARS-associated hypomyelination ... known as PMD-like diseases (PMDL), caused by defects in GJC2, AIMP1, or HSPD. Among the rest of hypomyelinating diseases, it is ... Among the most frequent disorders is Pelizaeus-Merzbacher disease (PMD), caused by pathogenic variants in the PLP1 gene, as ... Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases. * ...
Sialic acid storage disease (Salla disease; sialic acid transporter deficiency): Clinical features include hypotonia, ... Glycogen Storage Disease Type II. Glycogen storage disease type II, or acid alpha-glucosidase (acid maltase) deficiency, is an ... acid lipase deficiency, mild form cholesterol ester storage disease) (See Wolman Disease and Cholesteryl Ester Storage Disease ... Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. Am J Med Genet. ...
Sialic acid storage disease (Salla disease; sialic acid transporter deficiency): Clinical features include hypotonia, ... Glycogen Storage Disease Type II. Glycogen storage disease type II, or acid alpha-glucosidase (acid maltase) deficiency, is an ... acid lipase deficiency, mild form cholesterol ester storage disease) (See Wolman Disease and Cholesteryl Ester Storage Disease ... Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. Am J Med Genet. ...
... intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, ... Sialic acid storage disease, severe infantile type. MedGen UID: 203367. •Concept ID: C1096902. •. Disease or Syndrome. ... Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal ... storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, ...
free sialic acid storage disease, see sialic acid storage disease. *Freeman-Sheldon syndrome ... Forbes disease, see glycogen storage disease type III. *formiminoglutamic aciduria, see glutamate formiminotransferase ... familial Alzheimer disease (FAD), see Alzheimer disease. *familial amyloid nephropathy with urticaria and deafness, see Muckle- ... Familial gout-kidney disease, see uromodulin-associated kidney disease. *Familial gouty nephropathy, see uromodulin-associated ...
... has the potential to deliver exogenous genetic material into specific cell types to promote survival and counteract disease. ... has the potential to deliver exogenous genetic material into specific cell types to promote survival and counteract disease. ... Increased levels of sialic acid, a known AAV9 inhibitor, in the CNS of a mouse model of lysosomal storage disorder have been ... but not peptide-modified AAVs for brain gene therapy in a mouse model of lysosomal storage disease. Mol. Ther. 20, 1393-1399. ...
Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla ... This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and ...
... sialic acid storage disease, MPS type IV B and GSD II (Pompe disease). For the latter disorder, we identified heptahexose (Hex7 ... glycogen storage disease typeâ ¡, Fabry disease, mucopolysaccharidosis type â , Krabbe disease, Niemann-Pick disease A/B and ... Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease caused by deficient activity of acid sphingomyelinase ( ... While NBS data for Gaucher disease, Fabry disease, Krabbe disease, MPS I, and Pompe disease has demonstrated the feasibility of ...
... sialic acid storage disease, MPS type IV B and GSD II (Pompe disease). ... To expand the possibilities to screen for these diseases, we developed an ultra-high-performance liquid chromatography (UHPLC) ... Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage ... Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of ...
I Cell Disease Idiopathic Pulmonary Fibrosis Infantile Free Sialic Acid Storage Disease ...
  • This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease. (medlineplus.gov)
  • Salla disease is a less severe form of sialic acid storage disease. (medlineplus.gov)
  • Babies with Salla disease usually begin exhibiting hypotonia during the first year of life and go on to experience progressive neurological problems. (medlineplus.gov)
  • Signs and symptoms of Salla disease include intellectual disability and developmental delay, seizures, problems with movement and balance (ataxia), abnormal tensing of the muscles (spasticity), and involuntary slow, sinuous movements of the limbs (athetosis). (medlineplus.gov)
  • Individuals with Salla disease usually survive into adulthood. (medlineplus.gov)
  • People with intermediate severe Salla disease have signs and symptoms that fall between those of ISSD and Salla disease in severity. (medlineplus.gov)
  • Salla disease occurs mainly in Finland and Sweden and has been reported in approximately 150 people. (medlineplus.gov)
  • A few individuals have been identified as having intermediate severe Salla disease. (medlineplus.gov)
  • The adult form is also known as Salla disease. (medicinelearners.com)
  • Salla disease, or the adult form of sialic acid storage disease, becomes apparent as early as infancy. (medicinelearners.com)
  • In the case of moderately severe courses - such as are typical for Salla disease - those affected usually reach adulthood. (medicinelearners.com)
  • His three first cousins had a more slowly progressive neurodegenerative disease, in line with the clinical phenotype of the milder form (Salla type) of this lysosomal disorder. (bgu.ac.il)
  • What is Salla disease? (23andme.com)
  • Salla disease (also known as free sialic acid storage disease) is a rare genetic disorder. (23andme.com)
  • They're not expected to have Salla disease themselves, but they could pass their variant on to their future children. (23andme.com)
  • Salla disease is caused by variants (differences) in the SLC17A5 gene. (23andme.com)
  • What are the symptoms of Salla disease? (23andme.com)
  • Symptoms of Salla disease include intellectual disability, loss of muscle tone and coordination over time, and seizures. (23andme.com)
  • Salla disease is most common in people of Finnish and Swedish descent. (23andme.com)
  • The 23andMe Salla Disease Carrier Status report* can tell you whether you may be a carrier for Salla disease. (23andme.com)
  • 23andMe tests for one variant in the SLC17A5 gene linked to Salla disease, and the report is most relevant for people of Finnish and Swedish descent. (23andme.com)
  • 23andMe does not test for all possible genetic variants linked to Salla disease, and individuals who have zero variants detected still have a chance of being a carrier for Salla disease. (23andme.com)
  • The Salla Disease Carrier Status report is included in the 23andMe Health + Ancestry Service. (23andme.com)
  • Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. (ubigene.us)
  • Diseases of current focus include the lysosomal diseases Niemann-Pick types A and C, mucolipidosis IV, GM1 and GM2 gangliosidosis, Sanfilippo type A (MPS IIIA), Batten disorders (CLN2 and CLN3) and Free Sialic Acid Storage Disorders like Salla disease. (einsteinmed.edu)
  • Over the years, section members have defined the basic defects in cystinosis, Salla disease, infantile free sialic acid storage disease and sialuria, and have identified the genes responsible for Hartnup disease, 3-methylglutaconic aciduria type III, HPS-2, HPS-3 and HPS-9. (nih.gov)
  • Of the two forms, infantile sialic acid storage disease is the one with the less favorable prognosis. (medicinelearners.com)
  • Mutations in the SLC17A5 (solute carrier family 17 (anion/sugar transporter), member 50) gene cause all forms of sialic acid storage disease. (wikipedia.org)
  • Mutations in the SLC17A5 gene cause all forms of sialic acid storage disease. (medlineplus.gov)
  • Different gene mutations lead to infantile or adult forms of sialic acid storage disease. (medicinelearners.com)
  • Approximately 20 mutations that cause sialic acid storage disease have been identified in the SLC17A5 gene. (medlineplus.gov)
  • SLC17A5 gene mutations that reduce or eliminate sialin activity result in a buildup of free sialic acid in the lysosomes. (medlineplus.gov)
  • A mutation in exon 8 of the SLC17A5 gene, replacing glycine with glutamic acid at position 328 of the sialin protein. (bgu.ac.il)
  • Certain variants in SLC17A5 prevent the sialin protein from removing sialic acid from lysosomes (compartments within cells that break down and digest material). (23andme.com)
  • Sialin moves a molecule called free sialic acid, which is produced when certain proteins and fats are broken down, out of the lysosomes to other parts of the cell. (medlineplus.gov)
  • The reduced functionality of the sialin leads to an accumulation of sialic acid in the lysosomes, i.e. to sialic acid storage disease. (medicinelearners.com)
  • Sialic acids are building blocks of glycoproteins, glycosaminoglycans and other substances and are released through their enzymatic degradation within special lysosomes. (medicinelearners.com)
  • The sialic acids produced in the lysosomes can be smuggled out of the lysosomes, resulting in an excessive accumulation of sialic acids in the lysosomes. (medicinelearners.com)
  • This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. (ubigene.us)
  • Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan-side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. (cdghub.com)
  • Rethinking lysosomes and lysosomal disease. (einsteinmed.edu)
  • Because reticuloendothelial cells (eg, in the spleen) are rich in lysosomes, reticuloendothelial tissues are involved in a number of lysosomal storage disorders, but, generally, tissues richest in the substrate are most affected. (msdmanuals.com)
  • Adams D, Wasserstein M. Free Sialic Acid Storage Disorders. (medlineplus.gov)
  • In severe cases of sialic acid storage disease, bone malformations, ascites ( abdominal dropsy ), severe movement disorders, spastic cramps and severe mental disabilities become noticeable soon after birth. (medicinelearners.com)
  • Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the accumulation of undigested or partially digested macromolecules, which ultimately results in cellular dysfunction and clinical abnormalities. (medscape.com)
  • Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others. (medscape.com)
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases (such as Krabbe disease), including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses as well as peroxisome disorders such as X-linked adrenoleukodystrophy. (medscape.com)
  • In general, transplantation yields the best results when performed early in the course of the disease (ie, in an asymptomatic affected sibling of a child with a lysosomal storage disorder), in centers with experience in performing transplantations to treat inherited metabolic disorders, and in patients healthy enough to tolerate the conditioning and transplantation regimen. (medscape.com)
  • Presentations with combined features of both disorders more likely have several different phenotypes of airway disease caused by a variety of mechanisms. (medscape.com)
  • Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. (biomedcentral.com)
  • Among the most frequent disorders is Pelizaeus-Merzbacher disease (PMD) , caused by pathogenic variants in the PLP1 gene, as well as a series of diseases with similar clinical and radiologic features, known as PMD-like diseases (PMDL), caused by defects in GJC2, AIMP1, or HSPD . (healthincode.com)
  • The lysosomal storage disorders are hereditary metabolic disorders characterized by autosomal recessive inheritance, mainly caused by deficiency of an enzyme responsible for the intra-lysosomal breakdown of various substrates and products of cellular metabolism. (bvsalud.org)
  • Background & objectives: Lysosomal storage disorders (LSDs) are genetic metabolic disorders which result from deficiency of lysosomal enzymes or defects in other lysosomal components. (bvsalud.org)
  • BACKGROUND: GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. (bvsalud.org)
  • Aberrant urinary oligosaccharide excretions were also detected for other disorders, including NGLY1 congenital disorder of deglycosylation, sialic acid storage disease, MPS type IV B and GSD II (Pompe disease). (cdghub.com)
  • Training in Comparative Medicine and Neuroscience provided the basis for my career interests in neurogenetic disease, particularly those disorders impacting neuronal homeostatic mechanisms and resulting in intellectual disability and related neurobehavioral abnormalities. (einsteinmed.edu)
  • For the past three decades, researchers in the Human Biochemical Genetics Section have studied rare disorders and discovered new diseases, employing the disciplines of biochemistry, cell biology and genetics. (nih.gov)
  • In aggregate, more than 500 patients with these very rare disorders have been evaluated in just the past five years to accrue cross-sectional and longitudinal data on the natural histories of these diseases for use in future interventional studies. (nih.gov)
  • Ongoing therapeutic trials address mitochondrial and oxidation-reduction disorders using an investigational drug (EPI-743), the histiocytosis of Erdheim-Chester disease using dabrafenib and trametinib, the myopathy of cystinosis using recombinant human growth hormone, and GNE myopathy using N-acetylmannosamine. (nih.gov)
  • Defects in the lysosomal breakdown of sphingolipids are the underlying cause of lipid storage disorders such as Niemann-Pick, Tay-Sachs, Krabbe and Gaucher diseases. (thermofisher.com)
  • AM is expressed in many tissues throughout the body, and plays acritical role in several diseases such as cancer, diabetes, cardiovascular and renal disorders, among others. (phoenixpeptide.com)
  • Although the disease is very rare worldwide, it shows a regional focus in northern Finland, where one in 40 heterozygous carriers is one of the relevant gene mutations. (medicinelearners.com)
  • Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease, and significant phenotypic heterogeneity between family members carrying identical mutations has been reported. (medscape.com)
  • Krabbe disease is caused by mutations in the GALC gene (mapped to chromosome 14q) which encodes galactocerebrosidase, an enzyme that degrades galactosylceramide, a normal constituent of myelin. (radiopaedia.org)
  • Four members of an extended consanguineous Bedouin family presented with different phenotypic variants of an autosomal recessive lysosomal free sialic acid storage disease. (bgu.ac.il)
  • Krabbe disease , also known as globoid cell leukodystrophy , is an autosomal recessive lysosomal storage disorder resulting in damage to cells involved in myelin turnover. (radiopaedia.org)
  • Niemann-P ick disease (NPD) is actually a collection of a number of distinct autosomal recessive lysosomal storage diseases . (radiopaedia.org)
  • Sialin is a transmembrane protein that normally clears the lysosome of monosaccharides such as sialic acid, which result from the enzymatic breakdown of glycoproteins and other substances. (medicinelearners.com)
  • More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
  • Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. (joplink.net)
  • On cell surfaces, sialic acid is typically found in glycoproteins and glycolipids, forming modifications known as glycosylation. (cabio.com)
  • Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. (medlineplus.gov)
  • Infantile free sialic acid storage disease (ISSD) is the most severe form of this disorder. (medlineplus.gov)
  • Sialic acid storage disease is a very rare disorder. (medlineplus.gov)
  • One affected individual had congenital ascites followed by rapid clinical deterioration and death, a presentation concordant with the clinical course of infantile free sialic acid storage disorder. (bgu.ac.il)
  • Gene therapy is experimental but in the future may help correct both somatic and neurologic abnormalities in a lysosomal storage disorder. (medscape.com)
  • We were the first to show essentially complete correction of CNS disease in the lysosomal disorder known as alpha-mannosidosis through the use of bone marrow transplantation and this treatment approach is now the standard of care for children diagnosed with this rare disorder. (einsteinmed.edu)
  • We have also actively pursued treatments for Niemann-Pick type C (NPC), a fatal cholesterol-glycosphingolipid lysosomal storage disorder of children. (einsteinmed.edu)
  • Based on our studies of glycosphingolipid processing abnormalities in NPC disease we developed the first and presently only approved (by EMEA) therapy for this disorder. (einsteinmed.edu)
  • Free sialic acid storage disorder: Progress and promise. (einsteinmed.edu)
  • Type 2 glycogenosis is a lysosomal storage disorder, but most glycogenoses are not. (msdmanuals.com)
  • Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
  • Discussions on how obstructive diseases share similar phenotypes have been emerging and evolving within the literature. (medscape.com)
  • The UDP phenotypes patients with potentially new diseases, identifies candidate disease-causing genes using single nucleotide polymorphism (SNP) arrays and exome sequencing, and pursues functional evidence that the mutation causes the disease. (nih.gov)
  • ISSD occurs when sialic acid is unable to be transported out of the lysosomal membrane and instead accumulates in the tissue, causing free sialic acid to be excreted in the urine. (wikipedia.org)
  • Although it is accepted by the metabolism as a building block, it does not have the ability to eject the sialic acid through the lysosomal membrane. (medicinelearners.com)
  • Normally, the sialic acids are transported out of the lysosome through the membrane of the lysosome with the help of the anion transport protein sialin. (medicinelearners.com)
  • Membrane probes include fluorescent analogs of natural lipids, as well as lipophilic organic dyes that have little structural resemblance to natural biomolecules ( Figure 13.2.1 in Fatty Acid Analogs and Phospholipids-Section 13.2 ). (thermofisher.com)
  • The attachment position of the fluorophore determines whether it is located in the nonpolar interior or at the water/lipid interface when the phospholipid analog is incorporated into a lipid bilayer membrane ( Figure 13.2.1 in Fatty Acid Analogs and Phospholipids-Section 13.2 ). (thermofisher.com)
  • Although fatty acids are ionized at neutral pH in water (pK a ~5), their pK a is typically ~7 in membranes, and thus a significant fraction of membrane-bound fatty acids are neutral species. (thermofisher.com)
  • Bioactive sphingolipids in health and disease: lipidomic analysis, metabolism and roles in membrane signaling and autophagy. (sphingolipidclub.com)
  • Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease. (wikipedia.org)
  • citation needed] ISSD is the most severe form of the sialic acid storage diseases. (wikipedia.org)
  • The Molecular and Genetic Basis of Neurologic and Psychiatric Disease. (radiopaedia.org)
  • Molecular genetic testing of LSDs is required for diagnostic confirmation when lysosomal enzyme assays are not available or not feasible to perform, and for the identification of the disease causing genetic variants. (bvsalud.org)
  • The molecular structures of these sialic acids contain a variety of functional groups, enabling them to perform a variety of functions in organisms. (cabio.com)
  • The purpose of this study was to investigate the activities of the total acid phosphatase (TAP), tartrate-resistant acid phosphatase (TRAP), low molecular weight protein tyrosine phosphatase (LMW-PTP) and alkaline phosphatase (ALP) enzymes, as well as the possible correlation in the serum and in unstimulated whole saliva of children. (bvsalud.org)
  • Sialic acid is a crucial molecule for cellular recognition and signaling due to its chemical properties. (cabio.com)
  • As an essential bioactive molecule, sialic acid possesses complex and diverse structures and chemical properties, and performs a variety of crucial functions in living organisms. (cabio.com)
  • People with sialic acid storage disease have signs and symptoms that may vary widely in severity. (medlineplus.gov)
  • It is not known how this buildup, or the disruption of other possible functions of sialin in the brain, causes the specific signs and symptoms of sialic acid storage disease. (medlineplus.gov)
  • Asthma and chronic obstructive pulmonary disease overlap syndrome (ACOS) is a term that has been used to describe patients who have severe COPD and/or severe asthma who find themselves with frequent exacerbations/hospitalizations and difficult-to-control or refractory symptoms. (medscape.com)
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases, including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses. (medscape.com)
  • Symptoms of the disease vary greatly, depending on the strain of virus and the species, age and health of the bird. (bio-rad-antibodies.com)
  • citation needed] A diagnosis can be made by measuring cultured tissue samples for increased levels of free sialic acid. (wikipedia.org)
  • Diagnosis of free sialic acid storage disease was based on clinical findings, histology, and biochemical assays of sialic acid. (bgu.ac.il)
  • The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening tools, such as algorithms, for the diagnosis of LSDs where the lack of disease awareness or failure to implement newborn screening results in a delayed diagnosis. (bvsalud.org)
  • 2004, it caused widespread disease in poultry in Asia (4) and led to human disease in Thailand and Vietnam, with Patient and Virologic Diagnosis reported fatality rates of 66% and 80%, respectively (5,6). (cdc.gov)
  • Altered hemodynamics in neonates, especially in relation to prematurity, congenital heart disease, and central nervous system injury. (stanford.edu)
  • In general, three other non-genetic problems related to lung tissue play a role in chronic obstructive pulmonary disease. (medicinenet.com)
  • Virus-mediated gene therapy has the potential to deliver exogenous genetic material into specific cell types to promote survival and counteract disease. (frontiersin.org)
  • My lab is also significantly involved in therapy development for genetic brain disease. (einsteinmed.edu)
  • Another goal pursued by researchers in the section has been to discover the causes of genetic diseases. (nih.gov)
  • The structural backbone of sphingolipids is the lipophilic amino-dialcohol sphingosine (2-amino-4-octadecen-1,3-diol, Figure 13.1.1 ) to which a single fatty acid residue is attached via an amide linkage. (thermofisher.com)
  • We offer fluorescent and, in a few cases, biotinylated analogs of five naturally occurring lipid classes-phospholipids, sphingolipids (including ceramides), fatty acids, triglycerides and steroids. (thermofisher.com)
  • Fatty acids are the building blocks for a diverse set of biomolecules. (thermofisher.com)
  • Some fatty acids (e.g., arachidonic acid) are important in cell signaling. (thermofisher.com)
  • Fatty acids are liberated by the enzymatic action of phospholipase A on phospholipids ( Probes for Lipid Metabolism and Signaling-Section 17.4 ) and also by various other lipases. (thermofisher.com)
  • however, fatty acids transfer more readily between aqueous and lipid phases. (thermofisher.com)
  • Certain fluorescent fatty acids ( Fatty Acid Analogs and Phospholipids-Section 13.2 ) are readily metabolized by live cells to phospholipids, mono-, di- and triacylglycerols, cholesteryl esters and other lipid derivatives. (thermofisher.com)
  • Sialic acid storage disease is a very rare, genetically determined lysosomal storage disease in which the protein sialin is incorrectly encoded. (medicinelearners.com)
  • Characteristic of the sialic acid storage disease, which is also referred to as neuraminic acid storage disease, is a functional restriction or a total loss of function of the transport protein sialin. (medicinelearners.com)
  • sialic acid is necessary for muscle function because it interacts with the critical muscle protein, alpha-dystroglycan. (nih.gov)
  • The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. (joplink.net)
  • Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20? (joplink.net)
  • Mouse anti Newcastle Disease Virus antibody, clone 8H2 recognizes the hemagglutinin-neuraminidase (HN) protein of Newcastle disease virus (NDV). (bio-rad-antibodies.com)
  • It binds to sialic acid-containing cellular receptors and promotes activity of the viral fusion protein, thereby allowing the virus to penetrate the cell. (bio-rad-antibodies.com)
  • This results in a harmful buildup of sialic acid. (23andme.com)
  • Thus far, ERT has been largely unsuccessful in improving central nervous system manifestations of the lysosomal storage diseases, putatively due to difficulty in penetrating the blood-brain barrier. (medscape.com)
  • With thousands of clinical trials to date, gene therapy is a flourishing strategy with great promise for the treatment of diseases impacting the nervous system. (frontiersin.org)
  • Lysosomal Storage Diseases, Nervous System" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
  • This graph shows the total number of publications written about "Lysosomal Storage Diseases, Nervous System" by people in this website by year, and whether "Lysosomal Storage Diseases, Nervous System" was a major or minor topic of these publications. (childrensmercy.org)
  • Below are the most recent publications written about "Lysosomal Storage Diseases, Nervous System" by people in Profiles. (childrensmercy.org)
  • Treatment of mucopolysaccharidosis type I is enzyme replacement with laronidase , which effectively halts progression and reverses all non-central nervous system complications of the disease. (msdmanuals.com)
  • Sialic acid is a sugar-aldehyde derivative of twenty amino acids that is extensively distributed on the surfaces of animal and plant cells and in their body secretions. (cabio.com)
  • In with specific amino acid substitutions in PB2 and the mammalian experimental models, H5N1 influenza is a dis- multibasic cleavage site in HA (8). (cdc.gov)
  • After oseltamivir amino acid residues in HA and neuraminidase have been became available in Thailand, he was treated on day 15 of recently reported to be involved in avian pathogenicity (7). (cdc.gov)
  • Adrenomedullin (AM) is a 52-amino acid peptide with a pluripotentialactivity. (phoenixpeptide.com)
  • The defining characteristic of gangliosides is the sialic acid moiety of the oligosaccharide head group. (matreya.com)
  • The presence of calcium ions in diluents can enhance the binding of PNA to receptors, possibly by neutralizing the negative charges on sialic acid residues adjacent to the receptor sequence. (vectorlabs.com)
  • The mechanism contributing to the development of hydrops fetalis in storage diseases may involve the obstruction of venous blood return resulting from visceromegaly secondary to accumulation of storage material[ 13 ]. (biomedcentral.com)
  • More recently we discovered that the FDA-approved excipient known as hydroxypropyl beta-cyclodextrin is efficacious in limiting intraneuronal accumulation of both unesterified cholesterol and glycosphingolipids, and dramatically extends the lifespan in animal models of NPC disease. (einsteinmed.edu)
  • In recent years, the infant nutrition and functional food markets have paid increasing attention to sialic acid, a significant bioactive ingredient. (cabio.com)
  • The program has spearheaded the discovery of a new disease of vascular calcification called arterial calcification due to deficiency of CD73 (ACDC) and the associated calcification-inhibiting pathway of adenosine signaling in vascular endothelial cells. (nih.gov)
  • The inadequate production of stomach acid (hypochlorhydria) due to age degeneration, zinc deficiency, or the consumption of drugs such as Zantac and PPI e.g. (btoxicfree.com)
  • Free sialic acid means that the sialic acid is not attached (bound) to other molecules. (medlineplus.gov)
  • Free sialic acid can be detected in fibroblasts and amnion cells. (medicinelearners.com)
  • Infectious diseases that destroy lung tissue in patients with hyperactive airways or asthma also may contribute to COPD. (medicinenet.com)
  • 1) chronic bronchitis , 2) emphysema, and 3) infectious diseases of the lung. (medicinenet.com)
  • Infectious diseases of the lung may damage areas of the lung tissue and contribute to chronic obstructive pulmonary disease. (medicinenet.com)
  • 1 The National Institute of General Medical Sciences (NIGMS) is a central contributor to many NIH glycoscience efforts, although investments exist for other institutes, such as the National Cancer Institute (NCI), the National Heart, Lung, and Blood Institute (NHLBI), and the National Institute of Allergy and Infectious Diseases (NIAID). (nationalacademies.org)
  • The disease occurs slightly more often in men than in women. (medicinenet.com)
  • end-stage renal disease occurs up to 15% of affected individuals. (nih.gov)
  • The majority of individuals with Krabbe disease present in early childhood although adult presentations as late as the 5thdecade are encountered 9 . (radiopaedia.org)
  • MR imaging and proton MR spectroscopy in adult Krabbe disease. (radiopaedia.org)
  • It is estimated about 16 million adults in the United States have COPD , and it is the sixth leading cause of death in the U.S. according to the Centers for Disease Control (CDC). (medicinenet.com)
  • Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)
  • Section 2:Functions and Mechanisms of Sialic Acid in Biological Processes. (cabio.com)
  • What are the sialic acid's mechanisms of action in biological processes? (cabio.com)
  • Sialic acid plays an essential function in biological processes, and its mechanisms are involved in crucial biological processes such as cell signaling, cell adhesion, and receptor activation. (cabio.com)
  • An infantile and an adult form of the lysosomal sialic acid storage disease are known. (medicinelearners.com)
  • Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), Pompe disease, and recently Batten disease (neuronal ceroid lipofuscinoses, CLN2). (medscape.com)
  • In its 2017 guidelines update the Global Initiative for Asthma (GINA)-Global Initiative for Chronic Obstructive Lung Diseases (GOLD) explained that it no longer used the term asthma-COPD overlap syndrome (ASCO) because asthma-COPD overlap does not describe a single disease entity. (medscape.com)
  • Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), and Pompe disease. (medscape.com)
  • Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. (nih.gov)
  • This family demonstrates the significant phenotypic variability of the disease in affected members of a single inbred kindred with precisely the same mutation, suggesting a role for modifier genes or environmental factors. (bgu.ac.il)
  • Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases. (healthincode.com)
  • Candidate Genes: Not enough evidence in humans, but potentially associated with the disease. (healthincode.com)
  • Ubigene exclusive KO Cell Line Bank, over 5000 KO cell lines, covering thousands of genes from 8 popular signaling pathways and nearly 100 diseases. (ubigene.us)
  • Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados. (igenomix.com)
  • Niemann-pick disease type a presenting as unilateral tremors. (radiopaedia.org)
  • 2-Hydroxypropyl-β-cyclodextrin is the active component in a triple combination formulation for treatment of Niemann-Pick C1 disease. (einsteinmed.edu)
  • Individuals with FSASD may go misdiagnosed or undiagnosed, making it difficult to determine the true frequency of the disease in the general population. (wikipedia.org)
  • As an important sugar-aldehyde compound, sialic acid is widespread in organisms, and its unique structure and chemical properties make it an essential component of biological systems. (cabio.com)
  • Nitisinone blocks the production of homogentisic acid, which accumulates in alkaptonuria and forms polymers that bind to and destroy connective tissue. (nih.gov)
  • Sialic acid is also involved in cell adhesion and migration, playing a crucial regulatory function in cell motility and tissue formation. (cabio.com)
  • One of the most significant sources of sialic acid is animal tissue. (cabio.com)
  • By interacting with other proteins, sialic acid participates in adhesion between cells and between cells and matrix, thereby regulating tissue formation and maintenance. (cabio.com)
  • Tissue tropism and pathogenesis of influenza A virus infection and death, and this phenotype was associated subtype H5N1 disease in humans is not well defined. (cdc.gov)
  • In this report, we investigated a case of fatal H5N1 disease in a child for tissue tropism caused by the virus in the lungs and Highly pathogenic avian influenza virus H5N1 is the other organs. (cdc.gov)
  • In people affected by sialic acid storage disease, an increased concentration of sialic acid in the urine is symptomatic and an increased rate of excretion of polysaccharides. (medicinelearners.com)
  • Elliott P, Peakman TC (2008) The UK Biobank sample handling and storage protocol for the collection, processing and archiving of human blood and urine. (dub-signal.com)
  • The table below shows human diseases predicted to be associated to Abhd10 by phenotypic similarity . (mousephenotype.org)
  • My lab has published extensively in the area of pathogenic cascade analysis in lysosomal disease, defining key changes in neuronal structure and function as a consequence of lysosomal compromise. (einsteinmed.edu)