A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant

A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant

Item
http://www.wikidata.org/entity/Q28633654
Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs diseaseSix novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individualsTay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradationCloning and sequence analysis of a cDNA encoding the alpha-subunit of mouse beta-N-acetylhexosaminidase and comparison with the human enzyme.Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.Hexosaminidase A cleaves GalNAc from GM2 to form GM3Defective HEXA does not cleave the terminal GalNAc from DSDefective HEXA does not cleave the terminal GalNAc from keratan sulfateDefective HEXA does not cleave the terminall GalNAc from small HA fragmentsDefective HEXA causes GM2G1
P2860

A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant

Item
http://www.wikidata.org/entity/Q28633654
description
1988 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1988
@ast
scientific journal article
@en
vedecký článok (publikovaný 1988/09/01)
@sk
vědecký článek publikovaný v roce 1988
@cs
wetenschappelijk artikel (gepubliceerd op 1988/09/01)
@nl
наукова стаття, опублікована у вересні 1988
@uk
مقالة علمية (نشرت في سبتمبر 1988)
@ar
name
A point mutation in the coding ...... ual GM2-gangliosidosis variant
@ast
A point mutation in the coding ...... ual GM2-gangliosidosis variant
@en
A point mutation in the coding ...... ual GM2-gangliosidosis variant
@nl
type
label
A point mutation in the coding ...... ual GM2-gangliosidosis variant
@ast
A point mutation in the coding ...... ual GM2-gangliosidosis variant
@en
A point mutation in the coding ...... ual GM2-gangliosidosis variant
@nl
prefLabel
A point mutation in the coding ...... ual GM2-gangliosidosis variant
@ast
A point mutation in the coding ...... ual GM2-gangliosidosis variant
@en
A point mutation in the coding ...... ual GM2-gangliosidosis variant
@nl
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P356
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P698
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P1433
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A point mutation in the coding ...... ual GM2-gangliosidosis variant
@en
P2093
P2860
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P31
P356
10.1111/J.1471-4159.1988.TB01836.X
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P698