A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB
about
Over-expression of a functionally active human GM2-activator protein in Escherichia coliStructure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2Identification of a lysosomal protein causing lipid transfer, using a fluorescence assay designed to monitor membrane fusion between rat liver endosomes and lysosomesCharacterizing solution surface loop conformational flexibility of the GM2 activator protein.GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.Multi-system disorders of glycosphingolipid and ganglioside metabolismBiosynthesis and degradation of mammalian glycosphingolipids.A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.Cloning and sequence analysis of a cDNA clone coding for the mouse GM2 activator proteinLigand extraction properties of the GM2 activator protein and its interactions with lipid vesiclesGM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings.My journey into the world of sphingolipids and sphingolipidoses.Characterization of regulatory elements in the 5'-flanking region of the GM2 activator gene.Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.Sphingolipid metabolism. Sphingoid analogs, sphingolipid activator proteins, and the pathology of the cell.Ganglioside GM2 activator presents GM2 to hexosaminidase for cleavageCatabolism of asialo-GM2 in man and mouse. Specificity of human/mouse chimeric GM2 activator proteins.
P2860
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P2860
A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB
description
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1991
@ast
im September 1991 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1991/09/23)
@sk
vědecký článek publikovaný v roce 1991
@cs
wetenschappelijk artikel (gepubliceerd op 1991/09/23)
@nl
наукова стаття, опублікована у вересні 1991
@uk
مقالة علمية (نشرت في 23-9-1991)
@ar
name
A mutation in the gene of a gl ...... GM2-gangliosidosis variant AB
@ast
A mutation in the gene of a gl ...... GM2-gangliosidosis variant AB
@en
A mutation in the gene of a gl ...... GM2-gangliosidosis variant AB
@nl
type
label
A mutation in the gene of a gl ...... GM2-gangliosidosis variant AB
@ast
A mutation in the gene of a gl ...... GM2-gangliosidosis variant AB
@en
A mutation in the gene of a gl ...... GM2-gangliosidosis variant AB
@nl
prefLabel
A mutation in the gene of a gl ...... GM2-gangliosidosis variant AB
@ast
A mutation in the gene of a gl ...... GM2-gangliosidosis variant AB
@en
A mutation in the gene of a gl ...... GM2-gangliosidosis variant AB
@nl
P2093
P2860
P3181
P1433
P1476
A mutation in the gene of a gl ...... GM2-gangliosidosis variant AB
@en
P2093
D. Schnabel
K. Sandhoff
M. Schröder
P2860
P3181
P356
10.1016/0014-5793(91)81211-P
P407
P577
1991-09-23T00:00:00Z