Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro

Circulation Research

Volumn 99, Issue 4, 2006, Pages 389-397

  Singaraja, Roshni R ^a   Visscher, Henk ^a   James, Erick R ^a   Chroni, Angeliki ^b   Coutinho, Jonathan M ^a   Brunham, Liam R ^a   Kang, Martin H ^a   Zannis, Vassilis I ^b   Chimini, Giovanna ^c   Hayden, Michael R ^a,d  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c INSERM   (France)

^d Centre for Molecular Medicine and Therapeutics   (Canada)

Author keywords

ABCA1; Basic research; Cell culture; Cholesterol homeostasis; HDL cholesterol; Mutation; Tissue culture

Indexed keywords

ABC TRANSPORTER A1; APOLIPOPROTEIN A1; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; PHOSPHOLIPID;

ABCA1 GENE; ARTICLE; CELL SURFACE; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL TRANSPORT; CONTROLLED STUDY; DISEASE SEVERITY; FAMILIAL DISEASE; FAMILIAL HYPOALPHALIPOPROTEINEMIA; GENE; GENE LOCATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HYPOPROTEINEMIA; IN VITRO STUDY; MISSENSE MUTATION; PHENOTYPE; PHOSPHOLIPID TRANSFER; PRIORITY JOURNAL; PROTEIN BINDING; TANGIER DISEASE;

APOLIPOPROTEIN A-I; BIOTINYLATION; CELL LINE; CHOLESTEROL; CHOLINE; FLOW CYTOMETRY; HUMANS; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTAGENESIS, SITE-DIRECTED; MUTATION; POLYMERASE CHAIN REACTION; RECOMBINANT PROTEINS; TANGIER DISEASE; VARIATION (GENETICS);

EID: 33747399806     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.RES.0000237920.70451.ad     Document Type: Article

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