Article
Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.
Investigative ophthalmology & visual science - 1 Jul 2015
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
Abstract excerpt
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 I366fsX18 (c.1098_1100+7del), identified in a patient in our practice, on Best1 trafficking, oligomerization, and channel...
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