Article
CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.
Stem cell reports - 12 Sept 2023
Buck Thilo M, Quinn Peter M J, Pellissier Lucie P, Mulder Aat A, Jongejan Aldo, Lu Xuefei, Boon Nanda, Koot Daniëlle, Almushattat Hind, Arendzen Christiaan H, Vos Rogier M, Bradley Edward J, Freund Christian, Mikkers Harald M M, Boon Camiel J F, Moerland Perry D, Baas Frank, Koster Abraham J, Neefjes Jacques, Berlin Ilana, Jost Carolina R, Wijnholds Jan
Abstract excerpt
CRB1 gene mutations can cause early- or late-onset retinitis pigmentosa, Leber congenital amaurosis, or maculopathy. Recapitulating human CRB1 phenotypes in animal models has proven challenging, necessitating the development of alternatives. We generated human induced pluripotent stem cell (iPSC)-derived retinal organoids of patients with retinitis pigmentosa caused by biallelic CRB1 mutations and evaluated them...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.