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Article

[Not only optic neuropathy: new molecular and clinical aspects of OPA1 gene mutations].

Klinika oczna - 1 Jan 2014

Ołdak Monika, Sciezyńska Aneta, Szulborski Kamil, Szaflik Jacek P, Szaflik Jerzy

Abstract excerpt

Autosomal dominant optic nerve atrophy is the most frequent dominantly inherited optic neuropathy. The main causesof the disease are OPA1 gene mutations, which are detected in about 60% of patients. Encoded by the nuclear genome the OPA1 protein plays an important role in a wide variety of processes crucial to the proper functioning of mitochondria, the role of OPAl in many of them has been discovered recently. A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25137924

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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