(Q35612416)

9 August 2017

title

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

1 reference

Ullrich congenital muscular dystrophy

9 August 2017

0 references

0 references

Elisabetta Mattioli

7

0 references

Luciano Merlini

object named as

Luciano Merlini

10

0 references

Paolo Bernardi

object named as

Paolo Bernardi

13

0 references

Natascha Bergamin

5

object named as

Natascha Bergamin

1 reference

9 August 2017

Alessia Angelin

1

1 reference

9 August 2017

Tania Tiepolo

2

1 reference

9 August 2017

Patrizia Sabatelli

3

1 reference

9 August 2017

Paolo Grumati

4

1 reference

9 August 2017

Cristina Golfieri

6

1 reference

9 August 2017

Francesca Gualandi

8

1 reference

9 August 2017

Alessandra Ferlini

9

1 reference

9 August 2017

Nadir M Maraldi

11

1 reference

9 August 2017

Paolo Bonaldo

12

1 reference

9 August 2017

language of work or name

English

0 references

publication date

10 January 2007

1 reference

Proceedings of the National Academy of Sciences of the United States of America

9 August 2017

published in

1 reference

9 August 2017

volume

104

1 reference

9 August 2017

issue

3

1 reference

9 August 2017

page(s)

991-996

1 reference

The mitochondrial permeability transition from in vitro artifact to disease target

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

Collagen VI related muscle disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss 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=1783427

The nonimmunosuppressive cyclosporin analogs NIM811 and UNIL025 display nanomolar potencies on permeability transition in brain-derived mitochondria.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe 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=1783427

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich 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=1783427

A distinct pathway remodels mitochondrial cristae and mobilizes cytochrome c during apoptosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

Opening of the mitochondrial permeability transition pore causes depletion of mitochondrial and cytosolic NAD+ and is a causative event in the death of myocytes in postischemic reperfusion of the heart.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

Mitochondria and cell death. Mechanistic aspects and methodological issues

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

Calcium and pyridine nucleotide interaction in mitochondrial membranes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

Calcineurin is a common target of cyclophilin-cyclosporin A and FKBP-FK506 complexes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

Identification of calcineurin as a key signalling enzyme in T-lymphocyte activation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

Keilin's Respiratory Chain Concept and Its Chemiosmotic Consequences

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

The mitochondrial effects of small organic ligands of BCL-2: sensitization of BCL-2-overexpressing cells to apoptosis by a pyrimidine-2,4,6-trione derivative

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

Interactions of cyclophilin with the mitochondrial inner membrane and regulation of the permeability transition pore, and cyclosporin A-sensitive channel.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems

25 September 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0610270104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0610270104

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

21 January 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1783427

23 October 2018

https://api.crossref.org/works/10.1073%2FPNAS.0610270104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0610270104

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0610270104

The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17215366

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0610270104

1 reference

9 August 2017

0 references

1 reference

9 August 2017

1 reference