Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
about
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interactionGeometric attributes of retaining glycosyltransferase enzymes favor an orthogonal mechanismWalker-Warburg syndromeCloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase IO Mannosylation of alpha-dystroglycan is essential for lymphocytic choriomeningitis virus receptor functionMutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanEndogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissuesDemonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activityProcessing and secretion of the N-terminal domain of alpha-dystroglycan in cell culture mediaA role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferationMutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanMutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanMutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromePikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpressionKeratan sulfate biosynthesisMouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophyPost-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localizationEthnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastCerebral cortex expansion and folding: what have we learned?Glycan Engineering for Cell and Developmental BiologyGenes and brain malformations associated with abnormal neuron positioningA muscle stem cell for every muscle: variability of satellite cell biology among different muscle groupsThe potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophyMammalian O-mannosylation: unsolved questions of structure/functionO-Mannosylation and human diseaseMembers of the evolutionarily conserved PMT family of protein O-mannosyltransferases form distinct protein complexes among themselves.Mutations in POMGNT1 cause non-syndromic retinitis pigmentosaCongenital muscular dystrophies: a brief reviewCharacterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathiesCongenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteinsCOL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humansGlycosyltransferase function in core 2-type protein O glycosylation.AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycanFAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophiesLARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophyTargeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethalityGlycosylation defects: a new mechanism for muscular dystrophy?GPR56 regulates pial basement membrane integrity and cortical laminationN-acetylglucosaminyltransferase V expression levels regulate cadherin-associated homotypic cell-cell adhesion and intracellular signaling pathwaysBiochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
P2860
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P2860
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
description
2001 nî lūn-bûn
@nan
2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@ast
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@en
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@en-gb
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@nl
type
label
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@ast
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@en
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@en-gb
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@nl
prefLabel
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@ast
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@en
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@en-gb
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@nl
P2093
P3181
P1433
P1476
Muscular dystrophy and neurona ...... a glycosyltransferase, POMGnT1
@en
P2093
H Mitsuhashi
H Topaloglu
K Kobayashi
K Taniguchi
M Takeuchi
P304
P3181
P356
10.1016/S1534-5807(01)00070-3
P407
P50
P577
2001-11-01T00:00:00Z