Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
about
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosaNovel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseExpression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglycan and forms of muscular dystrophy.Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane.Golgi phosphoprotein 3 mediates the Golgi localization and function of protein O-linked mannose β-1,2-N-acetlyglucosaminyltransferase 1.Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.Protein O-Linked Mannose β-1,4-N-Acetylglucosaminyl-transferase 2 (POMGNT2) Is a Gatekeeper Enzyme for Functional Glycosylation of α-Dystroglycan.
P2860
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P2860
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Biochemical correlation of act ...... s in muscle-eye-brain disease.
@ast
Biochemical correlation of act ...... s in muscle-eye-brain disease.
@en
type
label
Biochemical correlation of act ...... s in muscle-eye-brain disease.
@ast
Biochemical correlation of act ...... s in muscle-eye-brain disease.
@en
prefLabel
Biochemical correlation of act ...... s in muscle-eye-brain disease.
@ast
Biochemical correlation of act ...... s in muscle-eye-brain disease.
@en
P2093
P2860
P50
P356
P1433
P1476
Biochemical correlation of act ...... ns in muscle-eye-brain disease
@en
P2093
Lisa Bohlmann
Nicolas Laurent
Sara Kaloo
P2860
P304
P356
10.1042/BJ20101059
P407
P577
2011-06-01T00:00:00Z