... genes often result in retinal degeneration. The ability to reprogramme human cells into induced pluripotent stem cells and then differentiate them into a wide range of different cell types has revolutionised our ability to study human disease. To date, however, the challenge of producing fully...

... 2004 heat-shock protein immunophilin molecular chaperone proteasome retinal degeneration tetratricopeptide repeat LCA (Leber's congenital amaurosis) is inherited in an autosomal recessive manner and is characterized by severely impaired vision or blindness at birth. Mutations in AIPL1...