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

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 non...

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Detalles Bibliográficos
Autores principales: Ścieżyńska, Aneta, Ruszkowska, Ewelina, Szulborski, Kamil, Rydz, Katarzyna, Wierzbowska, Joanna, Kosińska, Joanna, Rękas, Marek, Płoski, Rafał, Szaflik, Jacek Paweł, Ołdak, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5571936/
https://www.ncbi.nlm.nih.gov/pubmed/28841713
http://dx.doi.org/10.1371/journal.pone.0183866

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