Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.

Doumanov, Jordan A; Zeitz, Christina; Dominguez Gimenez, Paloma; Audo, Isabelle; Krishna, Abhay; Alfano, Giovanna; Diaz, Maria Luz Bellido; Moskova-Doumanova, Veselina; Lancelot, Marie-Elise; Sahel, José-Alain; Nandrot, Emeline F; Bhattacharya, Shomi S

Doumanov, Jordan A; Zeitz, Christina; Dominguez Gimenez, Paloma; Audo, Isabelle; Krishna, Abhay; Alfano, Giovanna; Diaz, Maria Luz Bellido; Moskova-Doumanova, Veselina; Lancelot, Marie-Elise; Sahel, José-Alain; Nandrot, Emeline F; Bhattacharya, Shomi S.

Affiliation

Doumanov JA; Biological Faculty, Sofia University "Saint Kliment Ohridski", 8 Dragan Tzankov str, Sofia 1164, Bulgaria. doumanov@biofac.uni-sofia.bg

Int J Mol Sci ; 14(7): 15121-40, 2013 Jul 22.

Article in En | MEDLINE | ID: mdl-23880862

Subject(s)

Chloride Channels/metabolism; Eye Proteins/metabolism; Animals; Bestrophins; Cell Line; Chloride Channels/analysis; Chloride Channels/genetics; Dogs; Eye Proteins/analysis; Eye Proteins/genetics; Humans; Hypoxanthine Phosphoribosyltransferase/genetics; Hypoxanthine Phosphoribosyltransferase/metabolism; Madin Darby Canine Kidney Cells; Microscopy, Confocal; Mutagenesis, Site-Directed; Phosphorylation; Vitelliform Macular Dystrophy/genetics; Vitelliform Macular Dystrophy/metabolism; Vitelliform Macular Dystrophy/pathology

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Full text: 1 Database: MEDLINE Main subject: Chloride Channels / Eye Proteins Type of study: Risk_factors_studies Limits: Animals / Humans Language: En Journal: Int J Mol Sci Year: 2013 Type: Article Affiliation country: Bulgaria

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