Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy.

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Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Muscular Dystrophy with Ribito ...... chanism in Dystroglycanopathy.

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Muscular Dystrophy with Ribito ...... chanism in Dystroglycanopathy.

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Item

label

Muscular Dystrophy with Ribito ...... chanism in Dystroglycanopathy.

@en

Muscular Dystrophy with Ribito ...... chanism in Dystroglycanopathy.

@nl

prefLabel

Muscular Dystrophy with Ribito ...... chanism in Dystroglycanopathy.

@en

Muscular Dystrophy with Ribito ...... chanism in Dystroglycanopathy.

@nl

P1476

Muscular Dystrophy with Ribito ...... chanism in Dystroglycanopathy.

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P2093

Motoi Kanagawa

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

Tatsushi Toda

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P2860

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

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

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

B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

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

P304

259-267

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P31

scholarly article

P356

10.3233/JND-170255

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P433

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P478

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P577

2017-10-24T00:00:00Z

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P698

29081423

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P932

5701763

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