Associated Papers
Hsp70/CHIP E3 ligase complex triggers K149-linked ubiquitination and degradation of BEST1 mutants p.P233L and p.P346H, impairing chloride channel function and retinal integrity.
Zhou Z et al.
Cellular Signalling, 2026
Unilateral maculopathy associated with autosomal dominant bestrophinopathy.
Cruz-Pimentel M et al.
Ophthalmic Genetics, 2025
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.
Bitan J et al.
Investigative Ophthalmology & Visual Science, 2025
Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.
Xu P et al.
Journal of Translational Medicine, 2024
Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y et al.
Ophthalmology, 2024
The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.
Bianco L et al.
Ophthalmology. Retina, 2024
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2024
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium.
Liu J et al.
Investigative Ophthalmology & Visual Science, 2020
Inhibition of Ca2+ channel surface expression by mutant bestrophin-1 in RPE cells.
Cordes M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.
Milenkovic A et al.
Human Molecular Genetics, 2018
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy.
Jun I et al.
Scientific Reports, 2017
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
Tian L et al.
Investigative Ophthalmology & Visual Science, 2017
Bestrophin 1 and retinal disease.
Johnson AA et al.
Progress in Retinal and Eye Research, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.
Liu J et al.
Ophthalmic Research, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
Johnson AA et al.
Experimental Eye Research, 2014
Effects of alternative splicing on the function of bestrophin-1 calcium-activated chloride channels.
Kuo YH et al.
The Biochemical Journal, 2014
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
Ramsden SC et al.
European Journal of Human Genetics : Ejhg, 2012
Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.
Milenkovic VM et al.
Journal of Cell Science, 2011
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC et al.
Ophthalmology, 2011
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.
Booij JC et al.
Ophthalmology, 2010
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.
Querques G et al.
Molecular Vision, 2009
Clinical and molecular genetic analysis of best vitelliform macular dystrophy.
Boon CJ et al.
Retina (philadelphia, Pa.), 2009
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ et al.
Progress in Retinal and Eye Research, 2009
Fundus autofluorescence imaging of retinal dystrophies.
Boon CJ et al.
Vision Research, 2008
[Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy].
Ouyang YL et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2008
Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration.
Yu K et al.
Investigative Ophthalmology & Visual Science, 2007
The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function.
Yu K et al.
Investigative Ophthalmology & Visual Science, 2006
[VMD2 and its role in Best's disease and other retinopathies].
Stöhr H et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2005
Dbest1, a Drosophila homolog of human Bestrophin, is not required for viability or photoreceptor integrity.
Tavsanli BC et al.
Genesis (new York, N.y. : 2000), 2001
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
White K et al.
Human Mutation, 2000
The mutation spectrum of the bestrophin protein--functional implications.
Bakall B et al.
Human Genetics, 1999