Article
Functional characterization of newly-discovered mutations in human SR-BI.
PloS one - 1 Jan 2012
Chadwick Alexandra C, Sahoo Daisy
Abstract excerpt
In rodents, SR-BI has been firmly established as a physiologically relevant HDL receptor that mediates removal of HDL-cholesteryl esters (CE). However, its role in human lipoprotein metabolism is less defined. Recently, two unique point mutations in human SR-BI - S112F or T175A - were identified in subjects with high HDL-cholesterol (HDL-C) levels. We hypothesized that mutation of these conserved residues would...
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