(Q35868240)

10 August 2017

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

1 reference

10 August 2017

0 references

Masaji Tachikawa

1

1 reference

10 August 2017

Motoi Kanagawa

2

1 reference

10 August 2017

Chih-Chieh Yu

3

1 reference

10 August 2017

Kazuhiro Kobayashi

4

1 reference

10 August 2017

Tatsushi Toda

5

1 reference

10 August 2017

language of work or name

English

0 references

publication date

24 January 2012

1 reference

Journal of Biological Chemistry

10 August 2017

1 reference

10 August 2017

287

1 reference

10 August 2017

11

1 reference

10 August 2017

8398-8406

1 reference

Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Zebrafish models for human FKRP muscular dystrophies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Functional activation of the cystic fibrosis trafficking mutant delta F508-CFTR by overexpression

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3318729

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

27 July 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.300905

Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.300905

A new mutation of the fukutin gene in a non-Japanese patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.300905

Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.300905

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.300905

Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.300905

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.300905

Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.300905

Curcumin binds to the alpha-helical intermediate and to the amyloid form of prion protein - a new mechanism for the inhibition of PrP(Sc) accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.300905

Antioxidant compounds have potent anti-fibrillogenic and fibril-destabilizing effects for alpha-synuclein fibrils in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.300905

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22275357

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22275357

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The fukutin protein family--predicted enzymes modifying cell-surface molecules

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22275357

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1074/JBC.M111.300905

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

22275357

1 reference