Zebrafish models of collagen VI-related myopathies (Q33878282)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20338942%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Zebrafish models of collagen VI-related myopathies (English)

1 reference

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Collagen, type VI, alpha 1

29 January 2020

main subject

Danio rerio

0 references

1 reference

GOA release 2020-03-11

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29 January 2020

W R Telfer

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29 January 2020

A S Busta

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29 January 2020

C G Bonnemann

series ordinal

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29 January 2020

J J Dowling

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29 January 2020

publication date

25 March 2010

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29 January 2020

published in

Human Molecular Genetics

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29 January 2020

volume

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29 January 2020

issue

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29 January 2020

page(s)

2433-2444

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Natural history of Ullrich congenital muscular dystrophy.

29 January 2020

cites work

1 reference

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The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice.

5 July 2018

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Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy

5 July 2018

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Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies

5 July 2018

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Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin

5 July 2018

1 reference

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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

5 July 2018

1 reference

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Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

5 July 2018

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Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

5 July 2018

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Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy

5 July 2018

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Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem

5 July 2018

1 reference

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p53 activation by knockdown technologies

5 July 2018

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The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy

5 July 2018

1 reference

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Zebrafish orthologs of human muscular dystrophy genes

5 July 2018

1 reference

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Congenital muscular dystrophies and the extracellular matrix

5 July 2018

1 reference

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The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis

5 July 2018

1 reference

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Collagen VI related muscle disorders

5 July 2018

1 reference

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The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma

5 July 2018

1 reference

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The zebrafish as a model for muscular dystrophy and congenital myopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2876888

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2876888

Complexes of matrilin-1 and biglycan or decorin connect collagen VI microfibrils to both collagen II and aggrecan

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2876888

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2876888

Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2876888

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2876888

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

5 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2876888

5 July 2018

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ126

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2876888

Secretion and matrix assembly of recombinant type VI collagen.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2876888

The macromolecular structure of type-VI collagen. Formation and stability of filaments

5 July 2018

1 reference

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Molecular assembly, secretion, and matrix deposition of type VI collagen

5 July 2018

1 reference

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Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

5 July 2018

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Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

21 January 2018

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Autosomal recessive myosclerosis myopathy is a collagen VI disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ126

Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ126

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ126

Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ126

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ126

Kindlin-2 is an essential component of intercalated discs and is required for vertebrate cardiac structure and function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ126

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ126

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ126

Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy)

21 January 2018

1 reference

12 December 2020

Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy)

1 reference

12 December 2020

Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion

1 reference

12 December 2020

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20338942%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

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29 January 2020

PubMed publication ID

20338942

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20338942%20AND%20SRC:MED&resulttype=core&format=json