Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy - sprookjes - yvandenbroek - TriplyDB

Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy

Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy

http://www.wikidata.org/entity/Q24611333

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LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy The SH3 and cysteine-rich domain 3 (Stac3) gene is important to growth, fiber composition, and calcium release from the sarcoplasmic reticulum in postnatal skeletal muscle.Development of rabbit monoclonal antibodies for detection of alpha-dystroglycan in normal and dystrophic tissue.Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation Ectopic clustering of Cajal-Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy.Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice.Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA.Protein O-Mannosylation in the Murine Brain: Occurrence of Mono-O-Mannosyl Glycans and Identification of New Substrates The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy Cell Receptor-Basement Membrane Interactions in Health and Disease: A Kidney-Centric View Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance Role of dystroglycan in limiting contraction-induced injury to the sarcomeric cytoskeleton of mature skeletal muscle.LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans.Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglycan and forms of muscular dystrophy.Protein O-mannosylation in metazoan organisms.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?Prenatal muscle development in a mouse model for the secondary dystroglycanopathies AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.Recent advancements in understanding mammalian O-mannosylation.The attachment disorders of muscle: failure to carb-load Depletion of lamina-associated polypeptide 1 from cardiomyocytes causes cardiac dysfunction in mice.Cryosectioning of Contiguous Regions of a Single Mouse Skeletal Muscle for Gene Expression and Histological Analyses.Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth.Mitochondrial maintenance via autophagy contributes to functional skeletal muscle regeneration and remodeling.Targeting muscle stem cell intrinsic defects to treat Duchenne muscular dystrophy.

P2860

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P2860

Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy

http://www.wikidata.org/entity/Q24611333

description

2012 nî lūn-bûn

@nan

2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2012年の論文

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2012年論文

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2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

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2012年論文

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2012年论文

@wuu

name

Mouse fukutin deletion impairs ...... capitulates muscular dystrophy

@ast

Mouse fukutin deletion impairs ...... capitulates muscular dystrophy

@en

Mouse fukutin deletion impairs ...... capitulates muscular dystrophy

@nl

type

label

Mouse fukutin deletion impairs ...... capitulates muscular dystrophy

@ast

Mouse fukutin deletion impairs ...... capitulates muscular dystrophy

@en

Mouse fukutin deletion impairs ...... capitulates muscular dystrophy

@nl

prefLabel

Mouse fukutin deletion impairs ...... capitulates muscular dystrophy

@ast

Mouse fukutin deletion impairs ...... capitulates muscular dystrophy

@en

Mouse fukutin deletion impairs ...... capitulates muscular dystrophy

@nl

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Journal of Clinical Investigation

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Mouse fukutin deletion impairs ...... capitulates muscular dystrophy

@en

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Amy J Turner

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John D Lueck

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Marisa J Fortunato

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Patricia M Nienaber

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Steven J Foltz

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Yoshiaki Saito

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P2860

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

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 fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

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3330-3342

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1100404

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10.1172/JCI63004

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9

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122

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Aaron M. Beedle

Kevin P Campbell

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2012-08-27T00:00:00Z

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22922256

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3428090

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