Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease
about
Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretionFabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase geneStructural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated regionThe validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastatSequence variations in the first exon of alpha-galactosidase A.Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.Small molecule structure correctors abolish detrimental effects of apolipoprotein E4 in cultured neurons.Functional studies of new GLA gene mutations leading to conformational Fabry disease.Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry diseasePharmacological chaperone therapy for Fabry diseasePrediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility.α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein.
P2860
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P2860
Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease
description
1987 nî lūn-bûn
@nan
1987 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1987 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
name
Synthesis and processing of al ...... ent mutations in Fabry disease
@ast
Synthesis and processing of al ...... ent mutations in Fabry disease
@en
Synthesis and processing of al ...... ent mutations in Fabry disease
@en-gb
Synthesis and processing of al ...... ent mutations in Fabry disease
@nl
type
label
Synthesis and processing of al ...... ent mutations in Fabry disease
@ast
Synthesis and processing of al ...... ent mutations in Fabry disease
@en
Synthesis and processing of al ...... ent mutations in Fabry disease
@en-gb
Synthesis and processing of al ...... ent mutations in Fabry disease
@nl
prefLabel
Synthesis and processing of al ...... ent mutations in Fabry disease
@ast
Synthesis and processing of al ...... ent mutations in Fabry disease
@en
Synthesis and processing of al ...... ent mutations in Fabry disease
@en-gb
Synthesis and processing of al ...... ent mutations in Fabry disease
@nl
P2093
P1476
Synthesis and processing of al ...... ent mutations in Fabry disease
@en
P2093
Desnick RJ
Lemansky P
von Figura K
P304
P407
P577
1987-02-01T00:00:00Z