Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

• Principais autores: Christoph Jüschke (Autor), Thomas Klopstock (Autor), Claudia B. Catarino (Autor), Marta Owczarek-Lipska (Autor), Bernd Wissinger (Autor), John Neidhardt (Autor)
• Formato: Livro
• Publicado em: Elsevier, 2021-12-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Autosomal dominant optic atrophy (ADOA) is frequently caused by mutations in the optic atrophy 1 (OPA1) gene, with haploinsufficiency being the major genetic pathomechanism. Almost 30% of the OPA1-associated cases suffer from splice defects. We identified a novel OPA1 mutation, c.1065+5G>A, in pa...