Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy (Q39951945)

15 September 2017

Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy (English)

1 reference

15 September 2017

1

Patrick Yu-Wai-Man

1 reference

15 September 2017

6

Patrick F Chinnery

1 reference

15 September 2017

4

Lynsey M Cree

1 reference

15 September 2017

5

Marcela Votruba

1 reference

15 September 2017

Vanessa J Davies

2

1 reference

PMCID

4034167

15 September 2017

Malgorzata J Piechota

series ordinal

3

1 reference

PMCID

4034167

15 September 2017

language of work or name

English

0 references

publication date

14 May 2009

1 reference

Investigative Ophthalmology Visual Science

15 September 2017

1 reference

15 September 2017

50

1 reference

15 September 2017

10

1 reference

15 September 2017

4561-4566

1 reference

Inherited mitochondrial optic neuropathies

15 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

What causes mitochondrial DNA deletions in human cells?

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

Focus on molecules: the OPA1 protein.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

The diagnosis of mitochondrial muscle disease.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

Mitochondrial DNA--all things bad?

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

Genotype-phenotype correlation of mouse pde6b mutations

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

eOPA1: an online database for OPA1 mutations.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

Presence of visual head tracking differentiates normal sighted from retinal degenerate mice

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

The natural history of OPA1-related autosomal dominant optic atrophy

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034167

Hereditary optic neuropathies

1 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19443720

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19443720

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19443720

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1167/IOVS.09-3634

1 reference

15 September 2017

1 reference

15 September 2017

1 reference

PMCID

4034167