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
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
Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y et al.
Ophthalmology, 2024
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.
Navinés-Ferrer A et al.
International Journal of Molecular Sciences, 2022
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
Shah M et al.
Jama Ophthalmology, 2020
A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations.
Low S et al.
Eye (london, England), 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
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
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.
Milenkovic VM et al.
Journal of Cell Science, 2011
Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.
Low S et al.
Molecular Vision, 2011
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.
Testa F et al.
The British Journal of Ophthalmology, 2008
[VMD2 and its role in Best's disease and other retinopathies].
Stöhr H et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2005
Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2).
Li Y et al.
Human Genetics, 2004
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
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
Marquardt A et al.
Human Molecular Genetics, 1998
Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization.
Al-Abri M et al.
Oman Journal of Ophthalmology, 0