Muscular dystrophies due to defective glycosylation of dystroglycan. - Wikidata - awgldk - TriplyDB

Muscular dystrophies due to defective glycosylation of dystroglycan.

Muscular dystrophies due to defective glycosylation of dystroglycan.

http://www.wikidata.org/entity/Q37223736

about

Arthrogryposis: a review and update Congenital basis of posterior fossa anomalies Fer kinase regulates cell migration through α-dystroglycan glycosylation Muscle-Eye-Brain disease.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.

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P2860

Muscular dystrophies due to defective glycosylation of dystroglycan.

http://www.wikidata.org/entity/Q37223736

description

article científic

@ca

article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on December 2007

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

@cs

name

Muscular dystrophies due to defective glycosylation of dystroglycan.

@en

Muscular dystrophies due to defective glycosylation of dystroglycan.

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type

label

Muscular dystrophies due to defective glycosylation of dystroglycan.

@en

Muscular dystrophies due to defective glycosylation of dystroglycan.

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prefLabel

Muscular dystrophies due to defective glycosylation of dystroglycan.

@en

Muscular dystrophies due to defective glycosylation of dystroglycan.

@nl

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Muscular dystrophies due to defective glycosylation of dystroglycan.

@en

P2093

A Manzur

http://www.w3.org/2001/XMLSchema#string

C A Sewry

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C Godfrey

http://www.w3.org/2001/XMLSchema#string

C Jimenez-Mallebrera

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E Clement

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E Mercuri

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F Muntoni

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L Feng

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M Ackroyd

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M Brockington

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P2860

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

Subcellular localization of fukutin and fukutin-related protein in muscle cells

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

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

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

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129-135

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scholarly article

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3

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26

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2007-12-01T00:00:00Z

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