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Article

Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.

International journal of molecular sciences - 4 Jul 2022

Navinés-Ferrer Arnau, Ruiz-Nogales Sheila, Navarro Rafael, Pomares Esther

Abstract excerpt

Best Vitelliform Macular dystrophy (BVMD) is the most prevalent of the distinctive retinal dystrophies caused by mutations in the BEST1 gene. This gene, which encodes for a homopentameric calcium-activated ion channel, is crucial for the homeostasis and function of the retinal pigment epithelia (RPE), the cell type responsible for recycling the visual pigments generated by photoreceptor cells. In BVMD patients,...

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Identifiers

PMID: 35806438
DOI: 10.3390/ijms23137432
PMCID: PMC9266689

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