CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs

• Main Authors: Paul E. Sladen (Author), Pedro R.L. Perdigão (Author), Grace Salsbury (Author), Tatiana Novoselova (Author), Jacqueline van der Spuy (Author), J. Paul Chapple (Author), Patrick Yu- (Author), Michael E. Cheetham (Author)
• Format: Book
• Published: Elsevier, 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy in the United Kingdom. DOA has an insidious onset in early childhood, typically presenting with bilateral, central visual loss caused by the preferential loss of retinal ganglion cells. 60%-70% of genetically confir...