Table 6_Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids.xlsx

Table 6_Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids.xlsx

Introduction<p>Retinal 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.</p>Methods<p>As no disease model...

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Main Author: Cécile Méjécase (3559889) (author)
Other Authors: Ya Zhou (489830) (author), Nicholas Owen (10097392) (author), Pablo Soro-Barrio (10810759) (author), Riccardo Cheloni (14247212) (author), Neelima Nair (645675) (author), Hajrah Sarkar (10123787) (author), Lyes Toualbi (5922386) (author), Mariya Moosajee (9259733) (author)
Published: 2025
Subjects:
Cell Biology
retinal dehydrogenase 12
autosomal dominant
retinitis pigmentosa
retinal organoids
induced pluripotent stem cells
vitamin A
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