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

Internet

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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