(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)

1 reference

17 April 2018

congenital muscular dystrophy

main subject

1 reference

Christopher T Esapa

1

1 reference

17 April 2018

R A Jeffrey McIlhinney

series ordinal

2

1 reference

17 April 2018

Derek J Blake

series ordinal

3

1 reference

17 April 2018

publication date

1 December 2004

1 reference

17 April 2018

published in

Human Molecular Genetics

1 reference

17 April 2018

volume

14

1 reference

17 April 2018

page(s)

295-305

1 reference

17 April 2018

issue

2

1 reference

17 April 2018

Intracellular functions of N-linked glycans

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

Biological roles of oligosaccharides: all of the theories are correct

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

The phenotype of limb-girdle muscular dystrophy type 2I

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs In Xenopus Oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI026

A stoichiometric complex of neurexins and dystroglycan in brain

21 January 2018

1 reference

COCI

https://opencitations.net/index/coci/api/v1/citations/10.1083/JCB.200105003

30 October 2021

Identifiers

DOI

10.1093/HMG/DDI026

1 reference

17 April 2018

PubMed ID

15574464

1 reference

17 April 2018