Naturally occurring mutations in GM2 gangliosidosis: a compendium.

Naturally occurring mutations in GM2 gangliosidosis: a compendium.

Item
http://www.wikidata.org/entity/Q34399088
Gaining insight into the inhibition of glycoside hydrolase family 20 exo-β-N-acetylhexosaminidases using a structural approachTay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradationTay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South AfrNeuraminidase-1 contributes significantly to the degradation of neuronal B-series gangliosides but not to the bypass of the catabolic block in Tay-Sachs mouse models.Linear-after-the-exponential (LATE)-PCR: an advanced method of asymmetric PCR and its uses in quantitative real-time analysis.Invertebrate models of lysosomal storage disease: what have we learned so far?The glycosphingolipid hydrolases in the central nervous system.Pathogenic role of ganglioside metabolism in neurodegenerative diseases.A selective inhibitor Gal-PUGNAc of human lysosomal beta-hexosaminidases modulates levels of the ganglioside GM2 in neuroblastoma cells.Elevation of Global O-GlcNAc in rodents using a selective O-GlcNAcase inhibitor does not cause insulin resistance or perturb glucohomeostasis
P2860

Naturally occurring mutations in GM2 gangliosidosis: a compendium.

Item
http://www.wikidata.org/entity/Q34399088
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
@ast
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
@en
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
@nl
type
label
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
@ast
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
@en
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
@nl
prefLabel
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
@ast
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
@en
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
@nl
P1433
P1476
P2093
P304
P31
P356
P478
P577
P698
P356
P1433
P1476
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
@en
P2093
P304
P31
P356
10.1016/S0065-2660(01)44081-8
P478
P577
P698