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Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium

PURPOSE: Bestrophinopathies are a group of untreatable inherited retinal dystrophies caused by mutations in the retinal pigment epithelium (RPE) Cl(−) channel bestrophin 1. We tested whether sodium phenylbutyrate (4PBA) could rescue the function of mutant bestrophin 1 associated with autosomal domin...

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Detalles Bibliográficos
Autores principales:	Liu, Jingshu, Taylor, Rachel L., Baines, Richard A., Swanton, Lisa, Freeman, Sally, Corneo, Barbara, Patel, Achchhe, Marmorstein, Alan, Knudsen, Travis, Black, Graeme C., Manson, Forbes
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2020
Materias:	Physiology and Pharmacology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7405785/ https://www.ncbi.nlm.nih.gov/pubmed/32421148 http://dx.doi.org/10.1167/iovs.61.5.28

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