PMID: 21920460

Liu Y, Tang C
Regulation of ABCA1 functions by signaling pathways.
Biochim Biophys Acta. 2012 Mar;1821(3):522-9. doi: 10.1016/j.bbalip.2011.08.015. Epub 2011 Sep 5., [PubMed]
Sentences
No. Mutations Sentence Comment
58 ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 21920460:58:184
status: NEW
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 However, the analysis of naturally-occurring ABCA1 mutations indicates that the solubilization and release of apoA-I with lipids may not be a passive process, as the missense mutation W590S, which is still able to bind and release apoA-I back into the media, has a low capacity to transfer lipids to the released apoA-I [47,48,52]. Login to comment 109 ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 21920460:109:90
status: NEW
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 Significantly, one naturally-occurring mutation of ABCA1 associated with Tangier disease, C1477R, severely reduces apoA-I-mediated cAMP production, ABCA1 phosphorylation and apoA-I-mediated lipid efflux, suggesting that direct interaction of apoA-I with a functional ABCA1 is required for the activation of cAMP/PKA pathway by apoA-I. Login to comment