Effects of mutations of ABCA1 in the first extracellular domain on subcellular trafficking and ATP binding/hydrolysis
AR Tanaka, S Abe-Dohmae, T Ohnishi, R Aoki… - Journal of Biological …, 2003 - ASBMB
ABCA1 mediates release of cellular cholesterol and phospholipid to form high density
lipoprotein (HDL). The three different mutants in the first extracellular domain of human
ABCA1 associated with Tangier disease, R587W, W590S, and Q597R, were examined for
their subcellular localization and function by using ABCA1-GFP fusion protein stably
expressed in HEK293 cells. ABCA1-GFP expressed in HEK293 was fully functional for apoA-
I-mediated HDL assembly. Immunostaining and confocal microscopic analyses …
lipoprotein (HDL). The three different mutants in the first extracellular domain of human
ABCA1 associated with Tangier disease, R587W, W590S, and Q597R, were examined for
their subcellular localization and function by using ABCA1-GFP fusion protein stably
expressed in HEK293 cells. ABCA1-GFP expressed in HEK293 was fully functional for apoA-
I-mediated HDL assembly. Immunostaining and confocal microscopic analyses …
