Abstract:Retinitis Pigmentosa (RP) is a common form of inherited degenerative disease that often leads to blindness. About 10% autosomal dominant RP cases have been associated with mutations in PRPF31 gene, which is involved in pre‐mRNA splicing. This commentary summarises the key findings of our recent publication ‘Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient‐induced pluripotent stem cell‐derived retinal pigment epithelium cells’ in the context of large cytoplasmic… Show more
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