(Q33952321)

30 July 2017

title

Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy (English)

1 reference

autosomal dominant optic atrophy

30 July 2017

1 reference

0 references

Ian A Trounce

8

0 references

David A. Mackey

object named as

David A Mackey

7

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Alex W. Hewitt

5

object named as

Alex W Hewitt

1 reference

30 July 2017

Nicole J Van Bergen

1

1 reference

30 July 2017

Jonathan G Crowston

2

1 reference

30 July 2017

Lisa S Kearns

3

1 reference

30 July 2017

Sandra E Staffieri

4

1 reference

30 July 2017

Amy C Cohn

6

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30 July 2017

language of work or name

English

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publication date

22 June 2011

1 reference

full work available at URL

30 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3120866

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published in

PLOS One

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30 July 2017

volume

6

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30 July 2017

issue

6

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30 July 2017

page(s)

e21347

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Creative Commons Attribution 4.0 International

30 July 2017

copyright license

start time

22 June 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3120866/fullTextXML

inferred from PubMed Central ID database lookup

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5 July 2018

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

5 July 2018

1 reference

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5 July 2018

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Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120866

Mutation spectrum and splicing variants in the OPA1 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120866

Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations

5 July 2018

1 reference

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Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120866

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120866

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120866

Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation

5 July 2018

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Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies

5 July 2018

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

5 July 2018

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Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

5 July 2018

1 reference

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Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120866

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5 July 2018

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The natural history of OPA1-related autosomal dominant optic atrophy

5 July 2018

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Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

21 January 2018

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eOPA1: an online database for OPA1 mutations

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021347

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

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021347

OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021347

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/10.1371%2FJOURNAL.PONE.0021347

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

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021347

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021347

Hereditary optic neuropathies share a common mitochondrial coupling defect.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021347

Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021347

Measurements of ATP in mammalian cells

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021347

H2O2-mediated oxidative stress versus cold ischemia-reperfusion: mitochondrial respiratory defects in cultured human endothelial cells.

21 January 2018

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Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome

21 January 2018

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12 December 2020

Visual acuity measurements

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12 December 2020

Complete mitochondrial genome amplification

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12 December 2020

Mitochondrial abnormalities in patients with primary open-angle glaucoma

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12 December 2020

10.1371/JOURNAL.PONE.0021347

Identifiers

DOI

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30 July 2017

0 references

1 reference

30 July 2017

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