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The alpha mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type alpha. E482K is more severely misfolded than G269S, as observed by its aggregation and inability to associate with the HexA beta chain. Importantly, both mutants are retrotranslocated from the endoplasmic reticulum to the cytosol and are degraded by the ...
reports a new missense mutation in the HEXA gene in two German siblings with late-onset Tay-Sachs disease and prominent psychiatric symptoms
The silencing of the HEXA gene had a stronger immune inhibitory effect, thereby indicating a major involvement of beta-N-acetyl-hexosaminidase A isoenzyme within this mechanism.
Human prostate cancer cells are characterised by a significant decrease in HexA activity.
DNA reveals novel mutations in Iranian subjects causing Tay-Sachs disease in the alpha and beta subunits of HexA.
GM2 (zeige CYB5D2 ELISA Kits) gangliosidosis is caused by the gene mutation. (review)
identified 27 different mutations, 14 of which were novel, in the HEXA gene and 14 different mutations, 8 of which unreported until now, in the HEXB (zeige HEXB ELISA Kits) gene, and attempted to correlate these mutations with the clinical presentation of the patients
HEXA gene in Argentinean patients affected with Tay-Sachs disease, overall 14 different mutations were identified, 8 of them were novel and lead to premature stop codons, drastic residues changes or a splicing defect.
Beta-hexosaminidase over-expression affects lysosomal glycohydrolases expression and glycosphingolipid metabolism in mammalian cells.
We report the first Jordanian Arab Tay-Sachs disease patient diagnosed by deficient beta-hexosaminidase A activity, mutation analysis revealed homozygosity for a nonsense HEXA mutation, c.78G>A (p.W26X)
SNPs in the HEXA region on chromosome 10 have a protective effect against Bovine spongiform encephalopathy.
Neu4 (zeige NEU4 ELISA Kits) is not the only sialidase contributing to the metabolic bypass in Hexa(-/-) mice.
This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I).
N-acetyl-beta-glucosaminidase subunit alpha
, beta-N-acetylhexosaminidase subunit alpha
, beta-hexosaminidase subunit alpha
, hexosaminidase subunit A
, beta-hexosaminidase subunit beta
, beta-hexosaminidase alpha chain
, hexosaminidase A (alpha polypeptide)
, beta-hexosaminidase alpha-subunit
, hexosaminidase A alpha
, Hexose aminidase A (alpha polypeptide)
, hexosaminidase A
, Beta-hexosaminidase alpha chain