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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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| Publicat a: | Invest Ophthalmol Vis Sci |
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| Autors principals: | , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
The Association for Research in Vision and Ophthalmology
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7405785/ https://ncbi.nlm.nih.gov/pubmed/32421148 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.61.5.28 |
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