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 patie...

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Autors principals:	Christoph Jüschke, Thomas Klopstock, Claudia B. Catarino, Marta Owczarek-Lipska, Bernd Wissinger, John Neidhardt
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2021-12-01
Col·lecció:	Molecular Therapy: Nucleic Acids
Matèries:	gene therapy U1 snRNA ExSpeU1 splicing Dominant Optic Atrophy DOA
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2162253121002626
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