Article
Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.
Circulation. Cardiovascular genetics - 1 Feb 2012
Pisciotta Livia, Favari Elda, Magnolo Lucia, Simonelli Sara, Adorni Maria Pia, Sallo Raffaella, Fancello Tatiana, Zavaroni Ivana, Ardigò Diego, Bernini Franco, Calabresi Laura, Franceschini Guido, Tarugi Patrizia, Calandra Sebastiano, Bertolini Stefano
Abstract excerpt
BACKGROUND: Angiopoietin-like protein 3 (ANGPTL3) affects lipid metabolism by inhibiting the activity of lipoprotein and endothelial lipases. Angptl3 knockout mice have marked hypolipidemia, and heterozygous carriers of ANGPLT3, loss-of-function mutations were found among individuals in the lowest quartile of plasma triglycerides in population studies. Recently, 4 related individuals with primary hypolipidemia...
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