ArticleProceedings of the National Academy of Sciences of the United States of America2002
The vitelliform macular dystrophy protein defines a new family of chloride channels.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 222 papers.
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Who cites it
222 citing papers in PubMed, 467 citations in OpenAlex.
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- Review of the clinical electrooculogram - Part 1: Mechanism of the Light-Rise.Documenta ophthalmologica. Advances in ophthalmology · 2026Review
- Allele-specific suppression of pathogenic bestrophin-1 transcripts by CRISPR/Cas9-mediated genome editing.Genome medicine · 2026Article
- ImmatureProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Case Report: Acute angle-closure glaucoma as the initial presentation of autosomal recessive bestrophinopathy caused by compound heterozygousFrontiers in medicine · 2026Article
- ImmaturebioRxiv : the preprint server for biology · 2025Article
- Bisretinoid lipofuscin, fundus autofluorescence and retinal disease.Progress in retinal and eye research · 2025Review
- Design and Biological Evaluation of hBest1-Containing Bilayer Nanostructures.Molecules (Basel, Switzerland) · 2025Article
- A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.Orphanet journal of rare diseases · 2025Article
- Cryo-EM structures of mouse bestrophin 1 channel in closed and partially open conformations.Molecules and cells · 2025Article
- The pentameric chloride channel BEST1 is activated by extracellular GABA.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Neurotransmitter-bound bestrophin channel structures reveal small molecule drug targeting sites for disease treatment.Nature communications · 2024Article
- Deciphering the Significance of Platelet-Derived Chloride Ion Channel Gene (BEST3) Through Platelet-Related Subtypes Mining for Non-Small Cell Lung Cancer.Journal of cellular and molecular medicine · 2024Article
- Review
- GAD65 tunes the functions of Best1 as a GABA receptor and a neurotransmitter conducting channel.Nature communications · 2024Article
- Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT.Vision research · 2024Article
- Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.Investigative ophthalmology & visual science · 2024Article
- Identification of the zebrafish homologues of IMPG2, a retinal proteoglycan.Cell and tissue research · 2023Article
- Computational Investigation of Mechanisms for pH Modulation of Human Chloride Channels.Molecules (Basel, Switzerland) · 2023Article
- BEST1 Positive Monocytes in Circulation: Visualize Intratumoral Crosstalk between Cancer Cells and Monocytes.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
162 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Vitelliform macular dystrophy (VMD/Best disease; MIM*153700) is an early-onset autosomal dominant disorder in which accumulation of lipofuscin-like material within and beneath the retinal pigment epithelium is associated with a progressive loss of central vision. Bestrophin, the protein product of the VMD gene, has four predicted transmembrane domains. There are multiple bestrophin homologues in the human, Drosophila, and Caenorhabditis elegans genomes, but no function has previously been ascribed to these proteins, and they show no detectable homology to other proteins of known function. Using heterologous expression, we show here that human, Drosophila, and C. elegans bestrophins form oligomeric chloride channels, and that human bestrophin is sensitive to intracellular calcium. Each of 15 missense mutations asscociated with VMD greatly reduces or abolishes the membrane current. Four of these mutant bestrophins were coexpressed with the wild type and each dominantly inhibited the wild-type membrane current, consistent with the dominant nature of the disease. These experiments establish the existence of a new chloride channel family and VMD as a channelopathy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.