Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. (Q34338854)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23580791%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies (English)

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28 February 2020

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1

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28 February 2020

author name string

Paolo Bonaldo

series ordinal

2

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publication date

1 May 2013

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Cold Spring Harbor Perspectives in Biology

28 February 2020

published in

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28 February 2020

volume

5

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28 February 2020

issue

5

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28 February 2020

page(s)

a011387

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The permeability transition pore as a Ca(2+) release channel: new answers to an old question

28 February 2020

cites work

1 reference

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Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results

6 July 2018

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Physical exercise stimulates autophagy in normal skeletal muscles but is detrimental for collagen VI-deficient muscles

6 July 2018

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

6 July 2018

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The collagen VI-related myopathies: muscle meets its matrix

6 July 2018

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Mitochondrial permeability transition in Ca(2+)-dependent apoptosis and necrosis

6 July 2018

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Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy

6 July 2018

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Zebrafish models of collagen VI-related myopathies

6 July 2018

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Autosomal recessive Bethlem myopathy

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Autosomal recessive inheritance of classic Bethlem myopathy

6 July 2018

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

6 July 2018

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Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels

6 July 2018

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

6 July 2018

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Dephosphorylation by calcineurin regulates translocation of Drp1 to mitochondria

6 July 2018

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Investigation of Debio 025, a cyclophilin inhibitor, in the dystrophic mdx mouse, a model for Duchenne muscular dystrophy

6 July 2018

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

6 July 2018

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

6 July 2018

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Autophagy fights disease through cellular self-digestion

6 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

6 July 2018

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

6 July 2018

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Congenital muscular dystrophies and the extracellular matrix

6 July 2018

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The mitochondrial permeability transition from in vitro artifact to disease target

6 July 2018

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Collagen VI related muscle disorders

6 July 2018

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Peptidylprolyl cis/trans isomerases (immunophilins): biological diversity--targets--functions

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

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Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

6 July 2018

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

6 July 2018

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

6 July 2018

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Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix

6 July 2018

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A mitochondrial perspective on cell death

6 July 2018

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The mitochondrial permeability transition, release of cytochrome c and cell death. Correlation with the duration of pore openings in situ

6 July 2018

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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.

6 July 2018

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6 July 2018

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Transient and long-lasting openings of the mitochondrial permeability transition pore can be monitored directly in intact cells by changes in mitochondrial calcein fluorescence

6 July 2018

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

6 July 2018

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Distinct regions control transcriptional activation of the alpha1(VI) collagen promoter in different tissues of transgenic mice

6 July 2018

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Binding of the NG2 proteoglycan to type VI collagen and other extracellular matrix molecules

6 July 2018

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

6 July 2018

1 reference

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Integrin and Arg-Gly-Asp dependence of cell adhesion to the native and unfolded triple helix of collagen type VI

6 July 2018

1 reference

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Secretion and matrix assembly of recombinant type VI collagen.

6 July 2018

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Electron-microscopical approach to a structural model of intima collagen

6 July 2018

1 reference

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Calcium and pyridine nucleotide interaction in mitochondrial membranes

6 July 2018

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

6 July 2018

1 reference

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Alpha 1 chain of chick type VI collagen. The complete cDNA sequence reveals a hybrid molecule made of one short collagen and three von Willebrand factor type A-like domains

6 July 2018

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The superfamily of proteins with von Willebrand factor type A-like domains: one theme common to components of extracellular matrix, hemostasis, cellular adhesion, and defense mechanisms

6 July 2018

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Multiple forms of chicken alpha 3(VI) collagen chain generated by alternative splicing in type A repeated domains

6 July 2018

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

6 July 2018

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Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors

6 July 2018

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Binding of the proteoglycan decorin to collagen type VI

6 July 2018

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

6 July 2018

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Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A.

6 July 2018

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Differential and restricted expression of novel collagen VI chains in mouse.

27 October 2018

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Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies

27 October 2018

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

27 October 2018

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

27 October 2018

1 reference

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

27 October 2018

1 reference

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Autosomal recessive myosclerosis myopathy is a collagen VI disorder

27 October 2018

1 reference

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An enhancer required for transcription of the Col6a1 gene in muscle connective tissue is induced by signals released from muscle cells.

27 October 2018

1 reference

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

27 October 2018

1 reference

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

27 October 2018

1 reference

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Three novel collagen VI chains with high homology to the alpha3 chain

27 October 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

27 October 2018

1 reference

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

27 October 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

27 October 2018

1 reference

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Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations

27 October 2018

1 reference

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

27 October 2018

1 reference

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

27 October 2018

1 reference

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Structural and functional features of the alpha 3 chain indicate a bridging role for chicken collagen VI in connective tissues

27 October 2018

1 reference

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

27 October 2018

1 reference

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Molecular consequences of dominant Bethlem myopathy collagen VI mutations

27 October 2018

1 reference

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A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

27 October 2018

1 reference

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

27 October 2018

1 reference

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

27 October 2018

1 reference

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

9 December 2018

1 reference

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Biosynthesis of chick type VI collagen. I. Intracellular assembly and molecular structure

9 December 2018

1 reference

12 December 2020

Biosynthesis of chick type VI collagen. II. Processing and secretion in fibroblasts and smooth muscle cells

1 reference

12 December 2020

Regulation of the permeability transition pore, a voltage-dependent mitochondrial channel inhibited by cyclosporin A

1 reference

12 December 2020

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

1 reference

12 December 2020

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

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

A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding

1 reference

12 December 2020

Autophagy thwarts muscle disease

1 reference

12 December 2020

Autophagy induction rescues muscular dystrophy

1 reference

12 December 2020

10.1101/CSHPERSPECT.A011387

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23580791%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23580791%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

PubMed publication ID

23580791

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23580791%20AND%20SRC:MED&resulttype=core&format=json