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 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...

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Detalles Bibliográficos
Autores principales: Navinés-Ferrer, Arnau, Ruiz-Nogales, Sheila, Navarro, Rafael, Pomares, Esther
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266689/
https://www.ncbi.nlm.nih.gov/pubmed/35806438
http://dx.doi.org/10.3390/ijms23137432

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266689/
https://www.ncbi.nlm.nih.gov/pubmed/35806438
http://dx.doi.org/10.3390/ijms23137432

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