Human Disease-causing Mutations Disrupt an N-C-terminal Interaction and Channel Function of Bestrophin 1
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference34 articles.
1. Ca2+-activated Cl− Current from Human Bestrophin-4 in Excised Membrane Patches
2. The vitelliform macular dystrophy protein defines a new family of chloride channels
3. Determinants of Anion Permeation in the Second Transmembrane Domain of the Mouse Bestrophin-2 Chloride Channel
4. Mouse Bestrophin-2 Is a Bona fide Cl− Channel
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1. Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation;International Journal of Molecular Sciences;2022-07-04
2. Genetic variations in Bestrophin-1 and associated clinical findings in two Chinese patients with juvenile-onset and adult-onset best vitelliform macular dystrophy;MOL MED REP;2018
3. Computer Simulations to Explore Membrane Organization and Transport;Membrane Biophysics;2017-11-22
4. Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy;Ophthalmic Research;2016
5. Multimodal imaging of adult-onset foveomacular vitelliform dystrophy;Saudi Journal of Ophthalmology;2014-04
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