Fiche publication
Date publication
juillet 2022
Journal
Circulation
Auteurs
Membres identifiés du Cancéropôle Est :
Pr DUVILLARD Laurence
,
Dr PAIS DE BARROS Jean-Paul
Tous les auteurs :
Dijk W, Di Filippo M, Kooijman S, van Eenige R, Rimbert A, Caillaud A, Thedrez A, Arnaud L, Pronk A, Garçon D, Sotin T, Lindenbaum P, Garcia EO, Pais de Barros JP, Duvillard L, Si-Tayeb K, Amigo N, Le Questel JY, Rensen PCN, Le May C, Moulin P, Cariou B
Lien Pubmed
Résumé
Atherosclerotic cardiovascular disease is the main cause of mortality worldwide and is strongly influenced by circulating low-density lipoprotein (LDL) cholesterol levels. Only a few genes causally related to plasma LDL cholesterol levels have been identified so far, and only 1 gene, , has been causally related to combined hypocholesterolemia. Here, our aim was to elucidate the genetic origin of an unexplained combined hypocholesterolemia inherited in 4 generations of a French family.
Mots clés
LIPC protein, human, Lipc protein, mouse, cholesterol, HDL, cholesterol, LDL, phospholipases
Référence
Circulation. 2022 07 28;:101161CIRCULATIONAHA121057978
