PMID: 16443932

Nofer JR, Remaley AT, Feuerborn R, Wolinnska I, Engel T, von Eckardstein A, Assmann G
Apolipoprotein A-I activates Cdc42 signaling through the ABCA1 transporter.
J Lipid Res. 2006 Apr;47(4):794-803. Epub 2006 Jan 28., [PubMed]
Sentences
No. Mutations Sentence Comment
5 ABCA1 p.Lys939Met
X
ABCA1 p.Lys939Met 16443932:5:134
status: NEW
view ABCA1 p.Lys939Met details
Similar effects were observed in HEK293 cells overexpressing ABCA1-green fluorescent protein (GFP) fusion protein, but not ABCA1-GFP (K939M), which fails to hydrolyze ATP, or a nonfunctional ABCA1-GFP with a truncated C terminus. Login to comment
51 ABCA1 p.Lys939Met
X
ABCA1 p.Lys939Met 16443932:51:143
status: NEW
view ABCA1 p.Lys939Met details
ABCA1-W-GFP variant with the disrupted first Walker A motif of ABCA1 was constructed by PCR-based mutagenesis, creating a missense mutation of K939M. Login to comment
52 ABCA1 p.Lys939Met
X
ABCA1 p.Lys939Met 16443932:52:143
status: NEW
view ABCA1 p.Lys939Met details
ABCA1-W-GFP variant with the disrupted first Walker A motif of ABCA1 was constructed by PCR-based mutagenesis, creating a missense mutation of K939M. Login to comment
189 ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 16443932:189:263
status: NEW
view ABCA1 p.Trp590Ser details
These findings suggest that ABCA1-DC is able to bind apoA-I in a nearly normal manner but that this process can be uncoupled from the ABCA1-mediated outside-in signaling and the transfer of cholesterol to apoA-I. Likewise, Fitzgerald et al. (7) reported that the W590S ABCA1 mutant is fully competent to form complexes with apoA-I but fails to efflux cholesterol normally. Login to comment
190 ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 16443932:190:23
status: NEW
view ABCA1 p.Cys1477Arg details
Another ABCA1 variant, C1477R, was shown by Haidar et al. (8) to be fully ineffective at mediating apoA-I-dependent cAMP formation and effluxing cholesterol, despite there being only partially decreased apoA-I binding. Login to comment
191 ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 16443932:191:263
status: NEW
view ABCA1 p.Trp590Ser details
These findings suggest that ABCA1-DC is able to bind apoA-I in a nearly normal manner but that this process can be uncoupled from the ABCA1-mediated outside-in signaling and the transfer of cholesterol to apoA-I. Likewise, Fitzgerald et al. (7) reported that the W590S ABCA1 mutant is fully competent to form complexes with apoA-I but fails to efflux cholesterol normally. Login to comment
192 ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 16443932:192:23
status: NEW
view ABCA1 p.Cys1477Arg details
Another ABCA1 variant, C1477R, was shown by Haidar et al. (8) to be fully ineffective at mediating apoA-I-dependent cAMP formation and effluxing cholesterol, despite there being only partially decreased apoA-I binding. Login to comment