Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. - Wikidata - wikimedia - TriplyDB

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.

http://www.wikidata.org/entity/Q42524150

about

Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction O Mannosylation of alpha-dystroglycan is essential for lymphocytic choriomeningitis virus receptor function Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation Processing and secretion of the N-terminal domain of alpha-dystroglycan in cell culture media Specific interaction of the actin-binding domain of dystrophin with intermediate filaments containing keratin 19.A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression Developmental and pathogenic mechanisms of basement membrane assembly Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy Visual impairment in the absence of dystroglycan Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome Crystal structure of the second LNS/LG domain from neurexin 1alpha: Ca2+ binding and the effects of alternative splicing The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophy Physiological roles of aquaporin-4 in brain Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish A comparative study of N-glycolylneuraminic acid (Neu5Gc) and cytotoxic T cell (CT) carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscle The burrowing behavior of the nematode Caenorhabditis elegans: a new assay for the study of neuromuscular disorders The multiple cellular functions of the oncoprotein Golgi phosphoprotein 3 Congenital muscular dystrophies: a brief review Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation A 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 Overexpression A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality Identification of new dystroglycan complexes in skeletal muscle

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P2860

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.

http://www.wikidata.org/entity/Q42524150

description

2002 nî lūn-bûn

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2002年の論文

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年學術文章

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2002年學術文章

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2002年學術文章

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name

Post-translational disruption ...... ngenital muscular dystrophies.

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Post-translational disruption ...... ngenital muscular dystrophies.

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type

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Post-translational disruption ...... ngenital muscular dystrophies.

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Post-translational disruption ...... ngenital muscular dystrophies.

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Post-translational disruption ...... ngenital muscular dystrophies.

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Post-translational disruption ...... ngenital muscular dystrophies.

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Post-translational disruption ...... ngenital muscular dystrophies.

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Daniel E Michele

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Fumiaki Saito

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Hannu Somer

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Jakob S Satz

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James Dollar

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Motoi Kanagawa

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Richard I Kelley

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Rita Barresi

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Ronald D Cohn

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10.1038/NATURE00837

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Kevin P Campbell

Katherine Mathews

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2002-07-01T00:00:00Z

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