PMID: 14592415

Ikeda Y, Abe-Dohmae S, Munehira Y, Aoki R, Kawamoto S, Furuya A, Shitara K, Amachi T, Kioka N, Matsuo M, Yokoyama S, Ueda K
Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release.
Biochem Biophys Res Commun. 2003 Nov 14;311(2):313-8., [PubMed]
Sentences
No. Mutations Sentence Comment
15 ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 14592415:15:72
status: NEW
view ABCA1 p.Trp590Ser details
ABCA1 p.Gln597Arg
X
ABCA1 p.Gln597Arg 14592415:15:83
status: NEW
view ABCA1 p.Gln597Arg details
ABCA1 p.Arg587Trp
X
ABCA1 p.Arg587Trp 14592415:15:65
status: NEW
view ABCA1 p.Arg587Trp details
 In fact, the three different mutants in ECD1 associated with TD, R587W, W590S, and Q597R, all had reduced apoA-I-mediated lipid release and subsequent HDL assembly when expressed in HEK293 [12-14]. Login to comment