Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. - Wikidata - wikimedia - TriplyDB

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

http://www.wikidata.org/entity/Q37140630

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SIRT3 deacetylates and activates OPA1 to regulate mitochondrial dynamics during stress Dominant optic atrophy.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.Mitochondrial morphology transitions and functions: implications for retrograde signaling?Mitochondrial dynamics: the intersection of form and function.

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Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

http://www.wikidata.org/entity/Q37140630

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

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scientific article published on 27 March 2009

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

@cs

name

Acute and late-onset optic atr ...... mitochondrial coupling defect.

@en

Acute and late-onset optic atr ...... mitochondrial coupling defect.

@nl

type

label

Acute and late-onset optic atr ...... mitochondrial coupling defect.

@en

Acute and late-onset optic atr ...... mitochondrial coupling defect.

@nl

prefLabel

Acute and late-onset optic atr ...... mitochondrial coupling defect.

@en

Acute and late-onset optic atr ...... mitochondrial coupling defect.

@nl

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Molecular Vision

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Acute and late-onset optic atr ...... mitochondrial coupling defect.

@en

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Arnaud Chevrollier

http://www.w3.org/2001/XMLSchema#string

Dominique Bonneau

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Marc Ferré

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Naig Gueguen

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Pascal Reynier

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Patrizia Amati-Bonneau

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Pierre-Jean Pisella

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Sophie Arsene

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Valérie Desquiret

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Vincent Procaccio

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P2860

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

Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization, and effect on mitochondrial morphology

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

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

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

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

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

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

Mutation spectrum and splicing variants in the OPA1 gene

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

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598-608

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scholarly article

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15

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2009-03-27T00:00:00Z

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19325939

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2661005

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