A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)
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Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpressionMouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophyPost-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localizationO-Mannosylation and human diseaseMutations in POMGNT1 cause non-syndromic retinitis pigmentosaDystroglycan and mitochondrial ribosomal protein L34 regulate differentiation in the Drosophila eye.Simultaneous characterization of glyco- and phosphoproteomes of mouse brain membrane proteome with electrostatic repulsion hydrophilic interaction chromatographyLARGE expression augments the glycosylation of glycoproteins in addition to α-dystroglycan conferring laminin binding.Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophyGlycoproteomic characterization of recombinant mouse α-dystroglycan.Differential glycosylation of α-dystroglycan and proteins other than α-dystroglycan by like-glycosyltransferaseGenetic defects in the human glycome.Role of glycosyltransferase PomGnT1 in glioblastoma progression.Protein O-mannosylation: conserved from bacteria to humans.Glycomic analyses of mouse models of congenital muscular dystrophyNeurons and glia modify receptor protein-tyrosine phosphatase ζ (RPTPζ)/phosphacan with cell-specific O-mannosyl glycans in the developing brain.Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophiesTransgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?Protein O-Mannosylation in the Murine Brain: Occurrence of Mono-O-Mannosyl Glycans and Identification of New SubstratesDevelopmental expression of the neuron-specific N-acetylglucosaminyltransferase Vb (GnT-Vb/IX) and identification of its in vivo glycan products in comparison with those of its paralog, GnT-VDystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex.The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy.Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development.Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy.Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycanMuscular dystrophies due to defective glycosylation of dystroglycan.Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblastProtein O-mannosylation in animal development and physiology: from human disorders to Drosophila phenotypesMouse b-wave mutants.What do mouse models of muscular dystrophy tell us about the DAPC and its components?Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain.The Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease.What Have We Learned from Glycosyltransferase Knockouts in Mice?POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.Recent advancements in understanding mammalian O-mannosylation.RPTPζ/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1Drosophila Dystroglycan is a target of O-mannosyltransferase activity of two protein O-mannosyltransferases, Rotated Abdomen and Twisted
P2860
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P2860
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)
description
2006 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մարտին հրատարակված գիտական հոդված
@hy
article scientifique
@fr
artículu científicu espublizáu en 2006
@ast
scientific journal article
@en
vedecký článok (publikovaný 2006/03/01)
@sk
vědecký článek publikovaný v roce 2006
@cs
wetenschappelijk artikel (gepubliceerd op 2006/03/01)
@nl
wissenschaftlicher Artikel
@de
наукова стаття, опублікована в березні 2006
@uk
name
A genetic model for muscle-eye ...... cosaminyltransferase (POMGnT1)
@ast
A genetic model for muscle-eye ...... cosaminyltransferase (POMGnT1)
@en
A genetic model for muscle-eye ...... cosaminyltransferase (POMGnT1)
@nl
type
label
A genetic model for muscle-eye ...... cosaminyltransferase (POMGnT1)
@ast
A genetic model for muscle-eye ...... cosaminyltransferase (POMGnT1)
@en
A genetic model for muscle-eye ...... cosaminyltransferase (POMGnT1)
@nl
prefLabel
A genetic model for muscle-eye ...... cosaminyltransferase (POMGnT1)
@ast
A genetic model for muscle-eye ...... cosaminyltransferase (POMGnT1)
@en
A genetic model for muscle-eye ...... cosaminyltransferase (POMGnT1)
@nl
P2093
P3181
P1476
A genetic model for muscle-eye ...... cosaminyltransferase (POMGnT1)
@en
P2093
Haining Shi
Henry J Kaminski
Jianmin Liu
Pinchao Mei
P304
P3181
P356
10.1016/J.MOD.2005.12.003
P577
2006-02-03T00:00:00Z