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

International Journal of Molecular Sciences

Volumn 14, Issue 7, 2013, Pages 15121-15140

  Doumanov, Jordan A ^a   Zeitz, Christina ^b,c,d   Dominguez Gimenez, Paloma ^e   Audo, Isabelle ^b,c,d   Krishna, Abhay ^e   Alfano, Giovanna ^f   Bellido Diaz, Maria Luz ^e   Moskova Doumanova, Veselina ^a   Lancelot, Marie Elise ^b,c,d   Sahel, José Alain ^b,c,d,g   Nandrot, Emeline F ^b,c,d   Bhattacharya, Shomi S ^b,c,d,e,f  

^a UNIVERSITY OF SOFIA   (Bulgaria)

^b INSERM   (France)

^c CNRS   (France)

^d INSTITUT DE LA VISION   (France)

^e CABIMER Andalusian Center for Molecular Biology and Regenerative Medicine CSIC University of Seville UPO   (Spain)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

Author keywords

Best1 protein; BVMD; Cell polarity; MDCK cells

Indexed keywords

BESTROPHIN 1 PROTEIN; PEPTIDES AND PROTEINS; TYROSINE; UNCLASSIFIED DRUG;

ARTICLE; BESTROPHIN 1 GENE; BIOTINYLATION; CELL SELECTION; CELLULAR DISTRIBUTION; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MDCK CELL; MUTANT; MUTATIONAL ANALYSIS; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN MOTIF; PROTEIN PHOSPHORYLATION; PROTEIN TARGETING; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS; WESTERN BLOTTING;

EID: 84880708337     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms140715121     Document Type: Article

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