(Q46789094)

25 December 2017

title

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

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25 December 2017

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Andrea Cossarizza

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25 December 2017

Maria Lucia Valentino

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25 December 2017

Michela Rugolo

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Michela Rugolo

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Valerio Carelli

object named as

Valerio Carelli

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author name string

Claudia Zanna

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25 December 2017

Anna Ghelli

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25 December 2017

Anna Maria Porcelli

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25 December 2017

Mariusz Karbowski

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25 December 2017

Richard J Youle

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25 December 2017

Simone Schimpf

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25 December 2017

Bernd Wissinger

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25 December 2017

Sara Vidoni

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25 December 2017

language of work or name

English

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publication date

1 February 2008

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25 December 2017

published in

Brain

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25 December 2017

volume

131

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25 December 2017

issue

Pt 2

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25 December 2017

page(s)

352-367

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25 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

21 January 2018

1 reference

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Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III.

21 January 2018

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Energy converting NADH:quinone oxidoreductase (complex I).

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Mitochondrial dysfunction as a cause of optic neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Disruption of fusion results in mitochondrial heterogeneity and dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Mutation spectrum and splicing variants in the OPA1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Mitochondrial respiratory-chain diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Loss of the intermembrane space protein Mgm1/OPA1 induces swelling and localized constrictions along the lengths of mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

The axonal transport of mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Regulation of mitochondrial morphology through proteolytic cleavage of OPA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Quantitation of mitochondrial dynamics by photolabeling of individual organelles shows that mitochondrial fusion is blocked during the Bax activation phase of apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

The harlequin mouse mutation downregulates apoptosis-inducing factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Blue Native electrophoresis to study mitochondrial and other protein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Mitochondrial dynamics and disease, OPA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Mgm1p, a dynamin-related GTPase, is essential for fusion of the mitochondrial outer membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

AIF deficiency compromises oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Human mitochondrial complex I assembly is mediated by NDUFAF1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

Mitochondrial fission in apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

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

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM335

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWM335

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25 December 2017

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25 December 2017