PMID: 19589783

Kockx M, Guo DL, Traini M, Gaus K, Kay J, Wimmer-Kleikamp S, Rentero C, Burnett JR, Le Goff W, Van Eck M, Stow JL, Jessup W, Kritharides L
Cyclosporin A decreases apolipoprotein E secretion from human macrophages via a protein phosphatase 2B-dependent and ATP-binding cassette transporter A1 (ABCA1)-independent pathway.
J Biol Chem. 2009 Sep 4;284(36):24144-54. Epub 2009 Jul 9., [PubMed]
Sentences
No. Mutations Sentence Comment
38 ABCA1 p.Arg1270*
X
ABCA1 p.Arg1270* 19589783:38:216
status: NEW
view ABCA1 p.Arg1270* details
Monocyte-derived macrophages with dysfunctional ABCA1 were obtained from male and female siblings with Tangier disease carrying a novel ABCA1 mutation c.4121Cb0e;T, which converts arginine 1270 into a stop codon (R1270X) (23). Login to comment
40 ABCA1 p.Arg1270*
X
ABCA1 p.Arg1270* 19589783:40:216
status: NEW
view ABCA1 p.Arg1270* details
Monocyte-derived macrophages with dysfunctional ABCA1 were obtained from male and female siblings with Tangier disease carrying a novel ABCA1 mutation c.4121CϾT, which converts arginine 1270 into a stop codon (R1270X) (23). Login to comment