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

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

Best Vitelliform Macular dystrophy (BVMD) is the most prevalent of the distinctive retinal dystrophies caused by mutations in the <i>BEST1</i> gene. This gene, which encodes for a homopentameric calcium-activated ion channel, is crucial for the homeostasis and function of the retinal pig...

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Bibliographic Details
Main Authors: Arnau Navinés-Ferrer, Sheila Ruiz-Nogales, Rafael Navarro, Esther Pomares
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:International Journal of Molecular Sciences
Subjects:
BVMD
BEST1
calcium-activated chloride channel
Ca<sup>2+</sup>-activated Cl<sup>−</sup> channel
RPE
iPSC-RPE
Online Access:https://www.mdpi.com/1422-0067/23/13/7432

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https://www.mdpi.com/1422-0067/23/13/7432

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