Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanHuman UDP-α-D-xylose synthase and Escherichia coli ArnA conserve a conformational shunt that controls whether xylose or 4-keto-xylose is producedEndogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissuesB4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycanThe glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylationISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeSGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan functionMouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophyThe potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophyO-Mannosylation and human diseaseThe secretory pathway kinasesA Method to Produce and Purify Full-Length Recombinant Alpha Dystroglycan: Analysis of N- and O-Linked Monosaccharide Composition in CHO Cells with or without LARGE OverexpressionAGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycanLARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophyThe Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary DystroglycanopathyLARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGEXylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2Dystroglycan organizes axon guidance cue localization and axonal pathfindingA POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsNAD+ biosynthesis ameliorates a zebrafish model of muscular dystrophy.Structural basis of laminin binding to the LARGE glycans on dystroglycan.The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan.Large is required for normal astrocyte migration and retinal vasculature development.Dystroglycan mediates homeostatic synaptic plasticity at GABAergic synapsesAdeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophyHuman natural killer-1 sulfotransferase (HNK-1ST)-induced sulfate transfer regulates laminin-binding glycans on α-dystroglycan.miRNA-based buffering of the cobblestone-lissencephaly-associated extracellular matrix receptor dystroglycan via its alternative 3'-UTR.Analysis of carbohydrates and glycoconjugates by matrix-assisted laser desorption/ionization mass spectrometry: An update for 2011-2012.Dissection of hexosyl- and sialyltransferase domains in the bifunctional capsule polymerases from Neisseria meningitidis W and Y defines a new sialyltransferase family.Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins?Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.A role for Galgt1 in skeletal muscle regeneration.Protein glycosylation in cancer.Ectopic clustering of Cajal-Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy.Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan.Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding ameliorationDownregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma.
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P2860
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
description
2012 nî lūn-bûn
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2012 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@ast
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@en
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@en-gb
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@nl
type
label
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@ast
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@en
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@en-gb
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@nl
prefLabel
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@ast
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@en
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@en-gb
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@nl
P2093
P2860
P3181
P356
P1433
P1476
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
@en
P2093
Kei-ichiro Inamori
Kevin P Campbell
Mary E Anderson
Takako Yoshida-Moriguchi
P2860
P3181
P356
10.1126/SCIENCE.1214115
P407
P577
2012-01-06T00:00:00Z