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Article

Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.

Journal of the neurological sciences - 15 Apr 2015

Formichi Patrizia, Radi Elena, Giorgi Eleonora, Gallus Gian Nicola, Brunetti Jlenia, Battisti Carla, Rufa Alessandra, Dotti Maria Teresa, Franceschini Rossella, Bracci Luisa, Federico Antonio

Abstract excerpt

Autosomal dominant optic atrophy (ADOA) is a hereditary optic neuropathy characterized by bilateral symmetrical visual loss, decrease in retinal ganglion cells and a loss of myelin within the optic nerve. ADOA is associated to mutations in Optic atrophy 1 gene (OPA1), which encodes a mitochondria...

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Source

Identifiers

PMID: 25796301
DOI: 10.1016/j.jns.2015.02.047

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25796301-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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