A rare gain of function variant of hepatic lipase attenuates hypercholesterolaemia and atherosclerosis in mice via an LDL receptor-independent mechanism.

doi:10.1093/cvr/cvaf097

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Article

A rare gain of function variant of hepatic lipase attenuates hypercholesterolaemia and atherosclerosis in mice via an LDL receptor-independent mechanism.

Cardiovascular research - 8 Jul 2025

Sotin Thibaud, Ge Xiaoke, Schönke Milena, Vince Lucie, Thouzeau Amélie, Frey Samuel, Lorant Victoria, Krul Lisa, Pronk Amanda C M, Lalai Reshma, Streefland Trea C M, Afkir Salwa, Dijk Wieneke, Smati Sarra, Heijink Marieke, Blomberg Niek, Giera Martin, Di Filippo Mathilde, Moulin Philippe, Kooijman Sander, Cariou Bertrand, Rensen Patrick C N, Le May Cédric

Abstract excerpt

AIMS: LIPC encodes hepatic lipase (HL), a liver-bound protein with both phospholipase and triglyceride lipase activity, and involved in the catabolism of circulating lipoproteins. We recently identified the gain-of-function variant HL-E97G, with selectively increased phospholipase activity, as a new genetic cause of familial combined hypocholesterolaemia in humans. The role of HL in the development of...

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Identifiers

PMID: 40460236
DOI: 10.1093/cvr/cvaf097

Genes

APOE
CETP
LDLR
GC
LIPC

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