Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease. - sprookjes - yvandenbroek - TriplyDB

Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.

Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.

http://www.wikidata.org/entity/Q37015841

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Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy.

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Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.

http://www.wikidata.org/entity/Q37015841

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article científic

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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 16 June 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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Expression pattern in retinal ...... d in muscle-eye-brain disease.

@en

Expression pattern in retinal ...... d in muscle-eye-brain disease.

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type

label

Expression pattern in retinal ...... d in muscle-eye-brain disease.

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Expression pattern in retinal ...... d in muscle-eye-brain disease.

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prefLabel

Expression pattern in retinal ...... d in muscle-eye-brain disease.

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Expression pattern in retinal ...... d in muscle-eye-brain disease.

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Molecular Vision

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Expression pattern in retinal ...... d in muscle-eye-brain disease.

@en

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Carmen Haro

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Jesús Cruces

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José Martín-Nieto

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Laura Campello

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Mary Luz Uribe

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P2860

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

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

Nuclear translocation of beta-dystroglycan reveals a distinctive trafficking pattern of autoproteolyzed mucins

Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase

A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation

Characterization of an Importin alpha/beta-recognized nuclear localization signal in beta-dystroglycan

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

Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization

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

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658-673

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scholarly article

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22

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María Paz Ventero

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2016-06-16T00:00:00Z

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27375352

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P921

Photoreceptor protein

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4911909

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