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Article

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.

Journal of cellular and molecular medicine - 1 Oct 2017

Kane Mariame Selma, Alban Jennifer, Desquiret-Dumas Valérie, Gueguen Naïg, Ishak Layal, Ferre Marc, Amati-Bonneau Patrizia, Procaccio Vincent, Bonneau Dominique, Lenaers Guy, Reynier Pascal, Chevrollier Arnaud

Abstract excerpt

Optic Atrophy 1 (OPA1) gene mutations cause diseases ranging from isolated dominant optic atrophy (DOA) to various multisystemic disorders. OPA1, a large GTPase belonging to the dynamin family, is involved in mitochondrial network dynamics. The majority of OPA1 mutations encodes truncated forms of the protein and causes DOA through haploinsufficiency, whereas missense OPA1 mutations are predicted to cause disease...

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Source

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Identifiers

PMID: 28378518
DOI: 10.1111/jcmm.13149
PMCID: PMC5618673

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.PMID 28378518Read ↗

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