Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies (Q36153344)

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13 February 2020

title

Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies (English)

1 reference

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13 February 2020

4

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Camilla Pellegrini

6

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13 February 2020

Luciano Merlini

10

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13 February 2020

Paolo Bernardi

11

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author name string

P Sabatelli

1

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13 February 2020

E Palma

2

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13 February 2020

A Angelin

3

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13 February 2020

A Urciuolo

5

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13 February 2020

T Tiepolo

7

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13 February 2020

P Bonaldo

8

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13 February 2020

F Gualandi

9

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13 February 2020

N M Maraldi

12

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13 February 2020

publication date

1 July 2012

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Journal of Cellular Physiology

13 February 2020

published in

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volume

227

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issue

7

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13 February 2020

page(s)

2927-2935

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Zebrafish models of collagen VI-related myopathies

13 February 2020

cites work

1 reference

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Therapy of collagen VI-related myopathies (Bethlem and Ullrich).

2 October 2017

1 reference

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Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

2 October 2017

1 reference

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

2 October 2017

1 reference

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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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins

2 October 2017

1 reference

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Congenital muscular dystrophies and the extracellular matrix

2 October 2017

1 reference

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The mitochondrial permeability transition from in vitro artifact to disease target

2 October 2017

1 reference

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Collagen VI related muscle disorders

2 October 2017

1 reference

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Early resistance to cell death and to onset of the mitochondrial permeability transition during hepatocarcinogenesis with 2-acetylaminofluorene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

2 October 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

2 October 2017

Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

A refined diagnostic algorithm for Bethlem myopathy

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy

2 July 2018

1 reference

Mitochondrial Ca2+ transport and permeability transition in zebrafish (Danio rerio).

21 January 2018

1 reference

On the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al.

21 January 2018

1 reference

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

21 January 2018

1 reference

Adipocyte-secreted factors synergistically promote mammary tumorigenesis through induction of anti-apoptotic transcriptional programs and proto-oncogene stabilization

21 January 2018

1 reference

A Tcf4-positive mesodermal population provides a prepattern for vertebrate limb muscle patterning.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Remodeling of the extracellular matrix through overexpression of collagen VI contributes to cisplatin resistance in ovarian cancer cells.

21 January 2018

1 reference

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

21 January 2018

1 reference

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Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415679

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

21 October 2018

1 reference

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

21 January 2018

1 reference

Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families

21 January 2018

1 reference

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

21 January 2018

1 reference

Three-dimensional configuration of the mitochondria in cultured heart cells

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21953374

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21953374

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/JCP.23039

1 reference

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13 February 2020

1 reference

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13 February 2020

PubMed publication ID

21953374

1 reference