(Q35928805)

11 August 2017

1 reference

12 October 2019

Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets (English)

1 reference

11 August 2017

mitochondrial disease

1 reference

12 October 2019

1 reference

12 October 2019

1 reference

12 October 2019

1 reference

3

Patrick Yu-Wai-Man

1 reference

11 August 2017

2

Patrick F Chinnery

1 reference

11 August 2017

Kamil S Sitarz

1

1 reference

11 August 2017

1 June 2012

4 references

Current Neurology and Neuroscience Reports

11 August 2017

24 March 2019

25 April 2019

12 October 2019

4 references

11 August 2017

24 March 2019

25 April 2019

12 October 2019

12

1 reference

11 August 2017

3

1 reference

11 August 2017

308-317

1 reference

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

NQO1-dependent redox cycling of idebenone: effects on cellular redox potential and energy levels

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Mitochondrial fusion and fission in cell life and death

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Frataxin and mitochondrial FeS cluster biogenesis.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

The neuro-ophthalmology of mitochondrial disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Mitochondrial DNA mutations affect calcium handling in differentiated neurons

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Gene-environment interactions in Leber hereditary optic neuropathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

OPA1 functions in mitochondria and dysfunctions in optic nerve.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Mitofusin-2 regulates mitochondrial and endoplasmic reticulum morphology and tethering: the role of Ras.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Inherited mitochondrial optic neuropathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Prevalence of mitochondrial DNA disease in adults

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Transmission of mitochondrial DNA disorders: possibilities for the future.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

2 October 2017

Mitochondrial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Mitochondrial dysfunction as a cause of optic neuropathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

The neurology of mitochondrial DNA disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

The epidemiology of Leber hereditary optic neuropathy in the North East of England

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3342502

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

27 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0260-0

Characterization of Ca2+ signalling in postnatal mouse retinal ganglion cells: involvement of OPA1 in Ca2+ clearance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0260-0

Hereditary optic neuropathies share a common mitochondrial coupling defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0260-0

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/10.1007%2FS11910-012-0260-0

Mitochondrial fusion protects against neurodegeneration in the cerebellum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0260-0

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0260-0

The distribution of mitochondrial activity in relation to optic nerve structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0260-0

Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0260-0

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0260-0

10.1007/S11910-012-0260-0

21 January 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

PMC publication ID

3342502

11 August 2017

PubMed publication ID

22392506

1 reference

PMC publication ID

3342502