Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.
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Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissuesMouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophyPost-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localizationAGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycanLARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophyTransgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscleContribution 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.Dystroglycan does not contribute significantly to kidney development or function, in health or after injury.Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan.Dystroglycan Depletion Impairs Actin-Dependent Functions of Differentiated Kasumi-1 CellsMislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding ameliorationPathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama 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.Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycanRole of dystroglycan in limiting contraction-induced injury to the sarcomeric cytoskeleton of mature skeletal muscle.Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.Postnatal Gene Therapy Improves Spatial Learning Despite the Presence of Neuronal Ectopia in a Model of Neuronal Migration Disorder.Protein O-mannosylation in animal development and physiology: from human disorders to Drosophila phenotypesTherapies and therapeutic approaches in Congenital Disorders of Glycosylation.Mammalian O-mannosylation pathway: glycan structures, enzymes, and protein substrates.What do mouse models of muscular dystrophy tell us about the DAPC and its components?Glycobiology of α-dystroglycan and muscular dystrophy.Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane.The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.Decreased surface sialic acid content is a sensitive indicator of muscle damage.Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy.Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.Second international workshop for glycosylation defects in muscular dystrophies, 11-12 November, 2010, Charlotte, USA.Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan
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P2860
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Residual laminin-binding activ ...... el mice to dystroglycanopathy.
@en
Residual laminin-binding activ ...... el mice to dystroglycanopathy.
@nl
type
label
Residual laminin-binding activ ...... el mice to dystroglycanopathy.
@en
Residual laminin-binding activ ...... el mice to dystroglycanopathy.
@nl
prefLabel
Residual laminin-binding activ ...... el mice to dystroglycanopathy.
@en
Residual laminin-binding activ ...... el mice to dystroglycanopathy.
@nl
P2093
P2860
P356
P1476
Residual laminin-binding activ ...... del mice to dystroglycanopathy
@en
P2093
Akemi Nishimoto
Fumi Tashiro
Kazuhiro Kobayashi
Mariko Taniguchi
Masaji Tachikawa
Motoi Kanagawa
Nobuhiro Fujikake
Satoshi Takeda
Shin'ichi Takeda
P2860
P304
P356
10.1093/HMG/DDN387
P577
2008-11-18T00:00:00Z