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
Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.
Xu P et al.
Journal of Translational Medicine, 2024
Predominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy.
Coussa RG et al.
The British Journal of Ophthalmology, 2022
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
Cellular Changes in Retinas From Patients With BEST1 Mutations.
Bonilha VL et al.
Frontiers in Cell and Developmental Biology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy.
Milenkovic A et al.
Biology Open, 2019
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
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
Bestrophinopathy: An RPE-photoreceptor interface disease.
Guziewicz KE et al.
Progress in Retinal and Eye Research, 2017
Bestrophin 1 and retinal disease.
Johnson AA et al.
Progress in Retinal and Eye Research, 2017
BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.
Moshfegh Y et al.
Human Molecular Genetics, 2016
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-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
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2014
Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.
Doumanov JA et al.
International Journal of Molecular Sciences, 2013
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy.
Kay CN et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2012
Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.
Milenkovic VM et al.
Journal of Cell Science, 2011
Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.
Guziewicz KE et al.
Investigative Ophthalmology & Visual Science, 2011
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
Kinnick TR et al.
Retina (philadelphia, Pa.), 2011
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.
Booij JC et al.
Ophthalmology, 2010
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
Functional roles of bestrophins in ocular epithelia.
Marmorstein AD et al.
Progress in Retinal and Eye Research, 2009
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.
Hartzell HC et al.
Physiological Reviews, 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
Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2).
Bakall B et al.
Experimental Eye Research, 2007
Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.
Mullins RF et al.
Investigative Ophthalmology & Visual Science, 2007
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.
Guziewicz KE 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
Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation.
Mullins RF et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2005
[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
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.
Allikmets R et al.
Human Genetics, 1999
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
Identification of the gene responsible for Best macular dystrophy.
Petrukhin K et al.
Nature Genetics, 1998