Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease
about
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interactionWalker-Warburg syndromeO Mannosylation of alpha-dystroglycan is essential for lymphocytic choriomeningitis virus receptor functionDemonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activityA role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferationA developmental and genetic classification for malformations of cortical development: update 2012Mutations in POMGNT1 cause non-syndromic retinitis pigmentosaGG: a domain involved in phage LTF apparatus and implicated in human MEB and non-syndromic hearing loss diseasesA phenotype survey of 36 mutant mouse strains with gene-targeted defects in glycosyltransferases or glycan-binding proteins.The dystroglycanopathies: the new disorders of O-linked glycosylationMammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding.Physical and functional association of human protein O-mannosyltransferases 1 and 2.Characteristics of neurons and glia in the brain of Fukuyama type congenital muscular dystrophyMutational and functional analysis of Large in a novel CHO glycosylation mutant.Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding ameliorationNovel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseProgressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice.Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.Congenital muscular dystrophies involving the O-mannose pathway.Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats.Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycanMuscular dystrophies due to defective glycosylation of dystroglycan.Muscular dystrophies due to glycosylation defects.Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglycan and forms of muscular dystrophy.A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity.Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane.Biological roles of glycans.Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
P2860
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P2860
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Loss-of-function of an N-acety ...... 1, in muscle-eye-brain disease
@ast
Loss-of-function of an N-acety ...... 1, in muscle-eye-brain disease
@en
Loss-of-function of an N-acety ...... 1, in muscle-eye-brain disease
@nl
type
label
Loss-of-function of an N-acety ...... 1, in muscle-eye-brain disease
@ast
Loss-of-function of an N-acety ...... 1, in muscle-eye-brain disease
@en
Loss-of-function of an N-acety ...... 1, in muscle-eye-brain disease
@nl
prefLabel
Loss-of-function of an N-acety ...... 1, in muscle-eye-brain disease
@ast
Loss-of-function of an N-acety ...... 1, in muscle-eye-brain disease
@en
Loss-of-function of an N-acety ...... 1, in muscle-eye-brain disease
@nl
P2093
P3181
P1476
Loss-of-function of an N-acety ...... 1, in muscle-eye-brain disease
@en
P2093
Hiroshi Manya
Kazuhiro Kobayashi
Keiwa Sakai
Kiyomi Taniguchi
Masao Kawakita
Tamao Endo
Tatsushi Toda
P3181
P356
10.1016/S0006-291X(03)00924-0
P407
P577
2003-06-20T00:00:00Z