Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia

Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in <i>CHM</i>, encoding Rab escort protein 1 (REP-1), leading to under-prenylation of Rab GTPases (Rabs). Despite ubiquitous expression of <i>CHM</i>, the phenotype is limited to degeneration of the reti...

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Bibliographic Details

Published in:	Cells
Main Authors:	Maide Ö. Raeker, Nirosha D. Perera, Athanasios J. Karoukis, Lisheng Chen, Kecia L. Feathers, Robin R. Ali, Debra A. Thompson, Abigail T. Fahim
Format:	Article
Language:	English
Published:	MDPI AG 2024-06-01
Subjects:	human pluripotent stem cells disease modeling retinal pigment epithelium inherited retinal disease retinal degeneration choroideremia
Online Access:	https://www.mdpi.com/2073-4409/13/12/1068