ArticleMethods in enzymology2021
Evaluating BEST1 mutations in pluripotent stem cell-derived retinal pigment epithelial cells.
Article in Methods in enzymology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.Documenta ophthalmologica. Advances in ophthalmology · 2026Review
- From BEST1 mutations to retinal regeneration: integrating stem cell-derived RPE models and gene correction strategies.Frontiers in cell and developmental biology · 2026Review
- Stem cell therapy for retinal pigment epithelium disorders.World journal of stem cells · 2025Review
- Neurotransmitter-bound bestrophin channel structures reveal small molecule drug targeting sites for disease treatment.Nature communications · 2024Article
- GAD65 tunes the functions of Best1 as a GABA receptor and a neurotransmitter conducting channel.Nature communications · 2024Article
- Nanocarriers for the Delivery of Neuroprotective Agents in the Treatment of Ocular Neurodegenerative Diseases.Pharmaceutics · 2023Review
- First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers.Journal of clinical medicine research · 2022Article
- Structure and Function of the Bestrophin family of calcium-activated chloride channels.Channels (Austin, Tex.) · 2021Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Bestrophin-1 (BEST1) is a calcium-activated chloride channel (CaCC) predominantly expressed at the basolateral membrane of the retinal pigment epithelium (RPE). Over 250 mutations in the BEST1 gene have been documented to cause at least five retinal degenerative disorders, commonly termed bestrophinopathies, to which no treatment is currently available. Therefore, understanding the influences of BEST1 disease-causing mutations on the physiological function of BEST1 in RPE is critical for deciphering the pathology of bestrophinopathies and developing therapeutic strategies for patients. However, this task has been impeded by the rarity of BEST1 mutations and limited accessibility to native human RPE cells. Here, we describe a pluripotent stem cell (PSC)-based pipeline for reproducibly generating RPE cells expressing endogenous or exogenous mutant BEST1, which provides us with a powerful "disease-in-a-dish" approach for studying BEST1 mutations in physiological environments.
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Registered trials
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