Article

Translational readthrough as a potential therapeutic for AIPL1-associated Leber Congenital Amaurosis in a patient-derived iPSC-retinal organoid model

2021-12-18

Abstract excerpt

<h4>Summary</h4> Leber Congenital Amaurosis type 4 (LCA4), caused by AIPL1 mutations, is characterised by severe sight impairment in infancy and rapidly progressive degeneration of photoreceptor cells. We generated retinal organoids using induced pluripotent stem cells (iPSCs) from renal epithelial cells obtained from four children with AIPL1 nonsense mutations. iPSC-derived photoreceptors exhibited the molecul...

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Literature Corpus work: 0461a4e5-a0a2-5b8c-b460-ea72b86b49bd
DOI: 10.1101/2021.12.17.473147

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