Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. (Q51935097)

17 April 2018

title

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. (English)

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17 April 2018

congenital muscular dystrophy

main subject

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Christopher T Esapa

1

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17 April 2018

R A Jeffrey McIlhinney

series ordinal

2

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17 April 2018

Derek J Blake

series ordinal

3

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17 April 2018

publication date

1 December 2004

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17 April 2018

published in

Human Molecular Genetics

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17 April 2018

volume

14

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17 April 2018

issue

2

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17 April 2018

page(s)

295-305

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17 April 2018

Intracellular functions of N-linked glycans

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FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

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The phenotype of limb-girdle muscular dystrophy type 2I

21 January 2018

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New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

21 January 2018

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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

21 January 2018

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A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering

21 January 2018

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Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor

21 January 2018

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FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

21 January 2018

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Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders

21 January 2018

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Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins

21 January 2018

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COCI

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30 October 2021

Identifiers

DOI

10.1093/HMG/DDI026

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17 April 2018

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17 April 2018