Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
about
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseMolecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperonesInsights into Krabbe disease from structures of galactocerebrosidaseStructural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.Multi-system disorders of glycosphingolipid and ganglioside metabolismAzasugar inhibitors as pharmacological chaperones for Krabbe diseaseHigh-throughput screening of stem cell therapy for globoid cell leukodystrophy using automated neurophenotyping of twitcher mice.Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy SeverityKrabbe Disease in the Arab World.The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.Newborn screening for Krabbe's disease.Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathiesThe mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure.Analysis of age-related changes in psychosine metabolism in the human brain.
P2860
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P2860
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
description
1996 nî lūn-bûn
@nan
1996 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
@ast
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
@en
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
@nl
type
label
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
@ast
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
@en
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
@nl
prefLabel
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
@ast
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
@en
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
@nl
P2093
P2860
P1476
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
@en
P2093
E H Kolodny
E L Sartorato
H MacFarlane
M A Gama Sosa
R De Gasperi
S Battistini
P2860
P304
P407
P577
1996-12-01T00:00:00Z