hexosaminidase a造句

• In particular, beta-hexosaminidase A breaks down a fatty compound called GM2 ganglioside.
• Tay & ndash; Sachs disease occurs when hexosaminidase A loses its ability to function.
• There are numerous mutations that lead to hexosaminidase A deficiency including gene deletions, nonsense mutations, and missense mutations.
• Researchers have also tried directly instilling the deficient enzyme hexosaminidase A into the cerebrospinal fluid ( CSF ) which bathes the brain.
• If you read the article below, you will find that the exact molecular role of beta-hexosaminidase A is not even known.
• If mutations in both alleles at this locus disrupt the activity of the GM2 activator, beta-hexosaminidase A cannot perform its normal function.
• This protein is a cofactor that is required for the normal function of beta-hexosaminidase A . The disease is usually fatal by early childhood.
• Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to hydrolyze G M2 gangliosides.
• When a patient has at least one " HEXA " copy that still enables some level of hexosaminidase A activity, a later onset disease form occurs.
• This protein is required for the normal function of beta-hexosaminidase A, a critical enzyme in the nervous system that breaks down a lipid called GM2 ganglioside.
• This protein binds molecules of ganglioside GM2, extracts them from membranes, and presents them to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3.
• NCOAT is also known as hexosaminidase C and has distinct substrate specificities compared to lysosomal hexosaminidase A . A single-nucleotide polymorphism in the human O-GlcNAcase gene is linked to diabetes mellitus type 2.
• Mutations in the ?-hexosaminidase A ( Hex A ) gene are known to affect the onset of Tay-Sachs, with 78 mutations of different types being described, 67 of which are known to cause disease.
• Enzyme assay techniques detect individuals with lower levels of hexosaminidase A . Development of a serum enzyme assay test made it feasible to conduct large scale screening for Tay Sachs in targeted at-risk populations such as Ashkenazi Jews.
• In 1969, Shintaro Okada and John S . O'Brien showed that Tay Sachs disease was caused by an enzyme defect; he also proved that Tay Sachs patients could be diagnosed by an assay of hexosaminidase A activity.
• Two of them are subunits of hexosaminidase A; the third is a small glycolipid transport protein, the GM2 activator protein ( GM2A ), which acts as a substrate-specific folding ( disrupting function ) or disable intracellular transport.
• In the brain and other tissues, beta-hexosaminidase A degrades GM2 gangliosides; specifically, the enzyme hydrolyses terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.
• The gene provides instructions for making a protein crucial to the enzymes beta-hexosaminidase A and beta-hexosaminidase B, which function in nerve cells to break down fatty substances, complex sugars, and molecules that are linked to sugars.
• He also proved that Tay Sachs disease patients could be diagnosed by enzyme assay of hexosaminidase A . Further development of enzyme assay testing demonstrated that levels of both hexosaminidases A and B could be measured in patients and carriers, allowing reliable detection of heterozygotes.
• There are 3 forms of beta-hexosaminidase : hexosaminidase A is a trimer, with one alpha, one beta-A and one beta-B chain; hexosaminidase B is a tetramer of two beta-A and two beta-B chains; and hexosaminidase S is a homodimer of alpha chains.