PMID: 23687307

Mineo C, Shaul PW
Regulation of signal transduction by HDL.
J Lipid Res. 2013 Sep;54(9):2315-24. doi: 10.1194/jlr.R039479. Epub 2013 May 18., [PubMed]
Sentences
No. Mutations Sentence Comment
152 ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 23687307:152:163
status: NEW
view ABCA1 p.Cys1477Arg details
 In studies of cAMP production and ABCA1 phosphorylation mediated by the apoA-I/ABCA1 tandem, it was found that mutations of ABCA1 associated with Tangier disease (C1477R, 2203X, and 2145X) cause the attenuation of both responses (99). Login to comment