Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Wieneke DijkMathilde Di FilippoSander KooijmanRobin van EenigeAntoine RimbertAmandine CaillaudAurélie ThedrezLucie ArnaudAmanda PronkDamien GarçonThibaud SotinPierre LindenbaumEnrique Ozcariz GarciaJean-Paul Pais de BarrosLaurence DuvillardKarim Si-TayebNuria AmigoJean-Yves Le QuestelPatrick C N RensenCédric Le MayPhilippe MoulinBertrand CariouPublished in: Circulation (2022)
, causally involved in familial combined hypocholesterolemia. Our mechanistic data highlight the critical role of hepatic lipase phospholipase activity in LDL cholesterol homeostasis and suggest a new LDL clearance mechanism.