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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Jüschke, Christoph, Klopstock, Thomas, Catarino, Claudia B., Owczarek-Lipska, Marta, Wissinger, Bernd, Neidhardt, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604756/
https://www.ncbi.nlm.nih.gov/pubmed/34853716
http://dx.doi.org/10.1016/j.omtn.2021.10.019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604756/
https://www.ncbi.nlm.nih.gov/pubmed/34853716
http://dx.doi.org/10.1016/j.omtn.2021.10.019

Ejemplares similares