PMID: 24196952

Kannenberg F, Gorzelniak K, Jager K, Fobker M, Rust S, Repa J, Roth M, Bjorkhem I, Walter M
Characterization of cholesterol homeostasis in telomerase-immortalized Tangier disease fibroblasts reveals marked phenotype variability.
J Biol Chem. 2013 Dec 27;288(52):36936-47. doi: 10.1074/jbc.M113.500256. Epub 2013 Nov 6., [PubMed]
Sentences
No. Mutations Sentence Comment
4 ABCA1 p.Asn935Ser
X
ABCA1 p.Asn935Ser 24196952:4:119
status: NEW
view ABCA1 p.Asn935Ser details
 We compared the consequences of an ABCA1 mutation that produced an apparent lack of atherosclerosis (Tangier family 1, N935S) with an ABCA1 mutation with functional ABCA1 knockout that was associated with severe atherosclerosis (Tangier family 2, Leu548 :Leu575 -End), using primary and telomerase-immortalized fibroblasts. Login to comment