Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration

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2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

@zh-hk

2012年論文

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2012年論文

@zh-tw

2012年论文

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2012年论文

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2012年论文

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name

Mislocalization of fukutin pro ...... rected at folding amelioration

@ast

Mislocalization of fukutin pro ...... rected at folding amelioration

@en

type

Item

label

Mislocalization of fukutin pro ...... rected at folding amelioration

@ast

Mislocalization of fukutin pro ...... rected at folding amelioration

@en

prefLabel

Mislocalization of fukutin pro ...... rected at folding amelioration

@ast

Mislocalization of fukutin pro ...... rected at folding amelioration

@en

P1476

Mislocalization of fukutin pro ...... rected at folding amelioration

@en

P2093

Chih-Chieh Yu

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Kazuhiro Kobayashi

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Masaji Tachikawa

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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

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

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

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

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

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

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

P304

8398-8406

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P31

scholarly article

P356

10.1074/JBC.M111.300905

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P407

English

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P478

287

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P577

2012-01-24T00:00:00Z

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P698

22275357

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P921

protein folding

P932

3318729

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