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Article

LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters.

Atherosclerosis - 1 Mar 2020

Arnaboldi Lorenzo, Ossoli Alice, Giorgio Eleonora, Pisciotta Livia, Lucchi Tiziano, Grigore Liliana, Pavanello Chiara, Granata Agnese, Pasta Andrea, Arosio Beatrice, Azzolino Domenico, Baragetti Andrea, Castelnuovo Samuela, Corsini Alberto, Catapano Alberico L, Calabresi Laura, Gomaraschi Monica

Abstract excerpt

BACKGROUND AND AIMS: Cholesteryl ester storage disease (CESD) due to LIPA gene mutations is characterized by hepatic steatosis, hypercholesterolemia and hypoalphalipoproteinemia, exposing affected patients to an increased cardiovascular risk. Further insights into the impact of LIPA gene mutations on lipid/lipoprotein metabolism are limited. Aim of the study was to investigate the effect of carrying one or two...

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Share to Acetyl-CoA C-Acetyltransferase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Human Umbilical Vein Endothelial Cells

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PMID: 32058863
DOI: 10.1016/j.atherosclerosis.2020.01.026

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