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
Characterization of functional and structural impairments in best vitelliform macular dystrophy using visual electrophysiology and optical coherence tomography in pediatric and adult patients.
Polosa A et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 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
Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree.
Hu F et al.
European Journal of Ophthalmology, 2023
Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.
Shi J et al.
Investigative Ophthalmology & Visual Science, 2023
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
Daich Varela M et al.
The British Journal of Ophthalmology, 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
Structure and Function of the Bestrophin family of calcium-activated chloride channels.
Owji AP et al.
Channels (austin, Tex.), 2021
Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations.
Zhao Q et al.
Elife, 2021
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.
Ji C et al.
Scientific Reports, 2019
Dual Ca2+-dependent gates in human Bestrophin1 underlie disease-causing mechanisms of gain-of-function mutations.
Ji C et al.
Communications Biology, 2019
Bestrophin 1 and retinal disease.
Johnson AA et al.
Progress in Retinal and Eye Research, 2017
BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.
Toto L et al.
Retina (philadelphia, Pa.), 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
Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
Pasquay C et al.
Ophthalmic Genetics, 2015
Structure and selectivity in bestrophin ion channels.
Yang T et al.
Science (new York, N.y.), 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
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
Davidson AE et al.
American Journal of Human Genetics, 2009
Unique Case of Bilateral Exudative Retinal Detachment following Creatine Supplementation in a Patient with Autosomal Dominant Bestrophinopathy.
Kopsidas K et al.
Case Reports in Ophthalmology, 0