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
Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.
Sæther E et al.
Acta Ophthalmologica, 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
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 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
Glutamate-releasing BEST1 channel is a new target for neuroprotection against ischemic stroke with wide time window.
Xiong S et al.
Acta Pharmaceutica Sinica. B, 2023
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
Disease-causing mutations associated with bestrophinopathies promote apoptosis in retinal pigment epithelium cells.
Gao T et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2020
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
Cellular Changes in Retinas From Patients With BEST1 Mutations.
Bonilha VL et al.
Frontiers in Cell and Developmental Biology, 2020
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
Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.
Cross SH et al.
Investigative Ophthalmology & Visual Science, 2019
Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective.
Dalvi S et al.
Advances in Experimental Medicine and Biology, 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
Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy.
Marmorstein AD et al.
Scientific Reports, 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
Bestrophin 1 and retinal disease.
Johnson AA et al.
Progress in Retinal and Eye Research, 2017
Stargardt disease-associated mutation spectrum of a Russian Federation cohort.
Zolnikova IV et al.
European Journal of Medical Genetics, 2017
Clinical and genetic heterogeneity in Slovenian patients with BEST disease.
Glavač D et al.
Acta Ophthalmologica, 2016
Contribution of Ion Channels in Calcium Signaling Regulating Phagocytosis: MaxiK, Cav1.3 and Bestrophin-1.
Strauß O et al.
Advances in Experimental Medicine and Biology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
Lee CS et al.
Investigative Ophthalmology & Visual Science, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
Pasquay C et al.
Ophthalmic Genetics, 2015
Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.
Marmorstein AD et al.
Molecular Vision, 2015
Causes and consequences of inherited cone disorders.
Roosing S et al.
Progress in Retinal and Eye Research, 2014
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Alapati A et al.
Investigative Ophthalmology & Visual Science, 2014
Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization.
Frennesson CI et al.
Acta Ophthalmologica, 2014
Stoichiometry and specific assembly of Best ion channels.
Bharill S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
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
Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.
Sharon D et al.
American Journal of Ophthalmology, 2014
Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking.
Johnson AA et al.
Human Molecular Genetics, 2013
Protease activated receptor 1-induced glutamate release in cultured astrocytes is mediated by Bestrophin-1 channel but not by vesicular exocytosis.
Oh SJ et al.
Molecular Brain, 2012
Phenotype and genotype of patients with autosomal recessive bestrophinopathy.
MacDonald IM et al.
Ophthalmic Genetics, 2012
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
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.
Bitner H et al.
Investigative Ophthalmology & Visual Science, 2011
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
Davidson AE et al.
Investigative Ophthalmology & Visual Science, 2011
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.
Wittström E et al.
Ophthalmic Genetics, 2011