Article
Characterization of the lipid-binding properties and lipoprotein lipase inhibition of a novel apolipoprotein C-III variant Ala23Thr.
Journal of lipid research - 1 Nov 2000
Liu H, Labeur C, Xu C F, Ferrell R, Lins L, Brasseur R, Rosseneu M, Weiss K M, Humphries S E, Talmud P J
Abstract excerpt
We have identified a G-to-A transition in exon 3 of the APOC3 gene resulting in a novel Ala23Thr apolipoprotein (apo) C-III variant, associated with apoC-III deficiency in three unrelated Yucatan Indians. The Ala23Thr substitution modifies the hydrophobic/hydrophilic repartition of the helical N-terminal peptide and hence could disturb the lipid association. In vitro expression in Escherichia coli of wild-type...
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