Bestrophin 1 and retinal disease
Sign Up to like & getrecommendations! Published in 2017 at "Progress in Retinal and Eye Research"
DOI: 10.1016/j.preteyeres.2017.01.006
Abstract: Mutations in the gene BEST1 are causally associated with as many as five clinically distinct retinal degenerative diseases, which are collectively referred to as the "bestrophinopathies". These five associated diseases are: Best vitelliform macular dystrophy,… read more here.
Keywords: bestrophin retinal; best1; macular dystrophy; retinal disease ... See more keywords
Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101782
Abstract: Best Disease is an inherited retinal dystrophy that results in progressive and irreversible central vision loss caused by mutations of BESTROPHIN1 (BEST1). We established human induced pluripotent stem cells (iPSCs) from a Best disease patient… read more here.
Keywords: human induced; disease; best1; induced pluripotent ... See more keywords
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-27951-8
Abstract: Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive bestrophinopathy (ARB) and autosomal dominant Best vitelliform macular dystrophy (BVMD). We applied whole-exome sequencing on four unrelated Indian families comprising… read more here.
Keywords: family; best1 mutations; sequencing identifies; best1 ... See more keywords
A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease
Sign Up to like & getrecommendations! Published in 2022 at "JCI Insight"
DOI: 10.1172/jci.insight.162687
Abstract: Here, we describe affected members of a 2-generation family with a Stargardt disease–like phenotype caused by a 2–base pair deletion insertion, c.1014_1015delGAinsCT;p.(Trp338_Asn339delinsCysTyr), in BEST1. The variant was identified by whole-exome sequencing, and its pathogenicity was… read more here.
Keywords: stargardt disease; disease; deletion insertion; phenocopies stargardt ... See more keywords
Tadalafil Rescues the p.M325T Mutant of Best1 Chloride Channel
Sign Up to like & getrecommendations! Published in 2023 at "Molecules"
DOI: 10.3390/molecules28083317
Abstract: Bestrophin 1 (Best1) is a chloride channel that localises to the plasma membrane of retinal pigment epithelium (RPE) cells. Mutations in the BEST1 gene are associated with a group of untreatable inherited retinal dystrophies (IRDs)… read more here.
Keywords: mutant best1; chloride channel; m325t mutant; best1 chloride ... See more keywords
Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations
Sign Up to like & getrecommendations! Published in 2021 at "eLife"
DOI: 10.7554/elife.67622
Abstract: Genetic mutation of the human BEST1 gene, which encodes a Ca2+-activated Cl- channel (BEST1) predominantly expressed in retinal pigment epithelium (RPE), causes a spectrum of retinal degenerative disorders commonly known as bestrophinopathies. Previously, we showed… read more here.
Keywords: function mutations; loss; gain function; best1 ... See more keywords