Article
Aberrant hetero-disulfide bond formation by the hypertriglyceridemia-associated p.Gly185Cys APOA5 variant (rs2075291).
Arteriosclerosis, thrombosis, and vascular biology - 1 Oct 2014
Sharma Vineeta, Witkowski Andrzej, Witkowska H Ewa, Dykstra Andrew, Simonsen Jens B, Nelbach Lisa, Beckstead Jennifer A, Pullinger Clive R, Kane John P, Malloy Mary J, Watson Gordon, Forte Trudy M, Ryan Robert O
Abstract excerpt
OBJECTIVE: Apolipoprotein A-V (apoA-V) is a low-abundance plasma protein that modulates triacylglycerol homeostasis. Gene transfer studies were undertaken in apoa5 (-/-) mice to define the mechanism underlying the correlation between the single-nucleotide polymorphism c.553G>T in APOA5 and hypertriglyceridemia. APPROACH AND RESULTS: Adeno-associated virus (AAV) 2/8-mediated gene transfer of wild-type apoA-V...
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