Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids

Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids

IntroductionRetinal dehydrogenase 12 (RDH12) is a photoreceptor NADPH-dependent retinal reductase enzyme, converting all-trans-retinal to all-trans-retinol. Heterozygous variants in RDH12 cause a rare autosomal dominant (AD) retinitis pigmentosa.MethodsAs no disease models exist, we generated human...

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Bibliographic Details
Main Authors: Cécile Méjécase, Ya Zhou, Nicholas Owen, Pablo Soro-Barrio, Riccardo Cheloni, Neelima Nair, Hajrah Sarkar, Lyes Toualbi, Mariya Moosajee
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
retinal dehydrogenase 12
autosomal dominant
retinitis pigmentosa
retinal organoids
induced pluripotent stem cells
vitamin A
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2025.1511066/full
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https://www.frontiersin.org/articles/10.3389/fcell.2025.1511066/full

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