Differential effects of best disease causing missense mutations on bestrophin-1 trafficking

Human Molecular Genetics

Volumn 22, Issue 23, 2013, Pages 4688-4697

  Johnson, Adiv A ^a   Lee, Yong Suk ^a   Brett Stanton, J ^a   Yu, Kuai ^c   Hartzell, Criss H ^c   Marmorstein, Lihua Y ^a   Marmorstein, Alan D ^a,b  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF ARIZONA   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANION CHANNEL; BESTROPHIN 1 PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL CULTURE; CELL MIGRATION; CONTROLLED STUDY; EPITHELIUM CELL; FETUS; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE EXPRESSION; HUMAN; HUMAN CELL; MDCK CELL; MISSENSE MUTATION; MOUSE; NONHUMAN; OLIGOMERIZATION; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINA MACULA VITELLIFORM DEGENERATION;

ANIMALS; CALCIUM SIGNALING; CELL MEMBRANE; CELLS, CULTURED; CHLORIDE CHANNELS; EYE; EYE PROTEINS; GENE EXPRESSION REGULATION; HUMANS; ION CHANNELS; MICE; MICE, INBRED BALB C; MICE, TRANSGENIC; MUTAGENESIS, SITE-DIRECTED; MUTANT PROTEINS; MUTATION, MISSENSE; PROTEIN TRANSPORT; VITELLIFORM MACULAR DYSTROPHY;

EID: 84887523151     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt316     Document Type: Article

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