Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. (Q44306523)

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English	Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.	scientific article

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29 December 2019

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance (English)

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29 December 2019

mitochondrial DNA

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Andrew M Schaefer

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29 December 2019

Robert McFarland

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29 December 2019

Robert William Taylor

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Douglass Matthew Turnbull

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Patrick F. Chinnery

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Emma L. Blakely

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29 December 2019

Philip Griffiths

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Patrizia Amati-Bonneau

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Joanna D Stewart

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Langping He

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29 December 2019

Kati Ahlqvist

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29 December 2019

Anu Suomalainen

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7 December 2007

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29 December 2019

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29 December 2019

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29 December 2019

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29 December 2019

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

A third locus for dominant optic atrophy on chromosome 22q.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mitochondrial dysfunction as a cause of optic neuropathies

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Disruption of fusion results in mitochondrial heterogeneity and dysfunction

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Composition and dynamics of human mitochondrial nucleoids

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mitochondrial fission and fusion mediators, hFis1 and OPA1, modulate cellular senescence

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mitochondrial disease

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

A lethal defect of mitochondrial and peroxisomal fission

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM272

21 January 2018

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