Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance

Journal of Cell Science

Volumn 124, Issue 17, 2011, Pages 2988-2996

  Milenkovic, Vladimir M ^a   Röhrl, Elena ^b   Weber, Bernhard H F ^b   Strauss, Olaf ^a  

^a UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^b UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

Best vitelliforme macular dystrophy; Bestrophin 1; Iodide flux; Missense mutation; Protein trafficking; YFP I152L

Indexed keywords

ANION; BESTROPHIN 1; MEMBRANE PROTEIN; MUTANT PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BEST1 GENE; CELL MEMBRANE; CELL MIGRATION; CELL STRAIN; CELL STRAIN HEK293; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; ION CONDUCTANCE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ANIMALS; ANIONS; CELL LINE; CELL MEMBRANE; CHLORIDE CHANNELS; DOGS; ENDOPLASMIC RETICULUM; ENDOSOMES; EYE PROTEINS; GOLGI APPARATUS; HEK293 CELLS; HUMANS; ION CHANNELS; MUTATION, MISSENSE; RETINAL DYSTROPHIES;

EID: 80053989924     PISSN: 00219533     EISSN: 14779137     Source Type: Journal    
DOI: 10.1242/jcs.085878     Document Type: Article

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