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Article

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

PloS one - 1 Jan 2017

Ścieżyńska Aneta, Ruszkowska Ewelina, Szulborski Kamil, Rydz Katarzyna, Wierzbowska Joanna, Kosińska Joanna, Rękas Marek, Płoski Rafał, Szaflik Jacek Paweł, Ołdak Monika

Abstract excerpt

Autosomal Dominant Optic Atrophy (ADOA) is the most common dominantly inherited optic neuropathy. In the majority of patients it is caused by OPA1 mutations and those predicted to introduce a premature termination codon (PTC) are frequently detected. Transcripts containing PTC may be degraded by nonsense-mediated mRNA decay (NMD), however very little is known about an effect of OPA1 mutations on NMD activation....

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Source

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Identifiers

PMID: 28841713
DOI: 10.1371/journal.pone.0183866
PMCID: PMC5571936

Genes

OPA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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