(Q33980340)

30 July 2017

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules (English)

1 reference

30 July 2017

Laurence A Bindoff

6

0 references

David C. Samuels

object named as

David C Samuels

series ordinal

3

0 references

Rita Horvath

object named as

Rita Horvath

series ordinal

7

0 references

Patrick Yu-Wai-Man

series ordinal

1

object named as

Patrick Yu-Wai-Man

1 reference

30 July 2017

8

Patrick F Chinnery

1 reference

30 July 2017

4

Philip G Griffiths

1 reference

30 July 2017

2

Kamil S Sitarz

1 reference

30 July 2017

Amy K Reeve

5

1 reference

30 July 2017

18 May 2010

1 reference

30 July 2017

Human Molecular Genetics

1 reference

30 July 2017

19

1 reference

30 July 2017

15

1 reference

30 July 2017

3043-3052

1 reference

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

Emerging roles of mitochondrial proteases in neurodegeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

OPA1-associated disorders: phenotypes and pathophysiology.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

OPA1 functions in mitochondria and dysfunctions in optic nerve.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

Regulation by exercise of skeletal muscle content of mitochondria and GLUT4.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

Mitochondrial DNA mutations in disease, aging, and neurodegeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901142

Inherited mitochondrial optic neuropathies

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Multi-system neurological disease is common in patients with OPA1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Focus on molecules: the OPA1 protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Hereditary optic neuropathies share a common mitochondrial coupling defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Relaxed replication of mtDNA: A model with implications for the expression of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

A model of the nuclear control of mitochondrial DNA replication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Transcriptional and post-transcriptional regulation of mitochondrial biogenesis in skeletal muscle: effects of exercise and aging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Mitochondrial transcription factor A and respiratory complex IV increase in response to exercise training in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Effects of exercise on mitochondrial content and function in aging human skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Training response of mitochondrial transcription factors in human skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Mitochondrial transcription factor A regulates mtDNA copy number in mammals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Mitochondrial abnormalities are more frequent in muscles undergoing sarcopenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Nature of mitochondrial DNA deletions in substantia nigra neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

MITOMAP: a human mitochondrial genome database--2004 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ209

Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism

21 January 2018

1 reference

12 December 2020

Effects of contractile activity on mitochondrial transcription factor A expression in skeletal muscle

1 reference

12 December 2020

Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects

1 reference

12 December 2020

Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain

1 reference

12 December 2020

Hereditary optic neuropathies

1 reference

12 December 2020

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis

1 reference

12 December 2020

The effect of training on the expression of mitochondrial biogenesis- and apoptosis-related proteins in skeletal muscle of patients with mtDNA defects

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ209

1 reference

30 July 2017

1 reference

30 July 2017

1 reference

PubMed ID

20484224