Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation

PURPOSE: Mutations in BEST1, encoding bestrophin-1 (Best1), cause autosomal recessive bestrophinopathy (ARB). Encoding bestrophin-1 is a pentameric anion channel localized to the basolateral plasma membrane of the RPE. Here, we characterize the effects of the mutations R141H (CGC > CAC) and I366f...

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Vydáno v:Invest Ophthalmol Vis Sci
Hlavní autoři: Johnson, Adiv A., Bachman, Lori A., Gilles, Benjamin J., Cross, Samuel D., Stelzig, Kimberly E., Resch, Zachary T., Marmorstein, Lihua Y., Pulido, Jose S., Marmorstein, Alan D.
Médium: Artigo
Jazyk:Inglês
Vydáno: The Association for Research in Vision and Ophthalmology 2015
Témata:
Retinal Cell Biology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4515977/
https://ncbi.nlm.nih.gov/pubmed/26200502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.15-16910
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