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Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
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, Ozcariz Garcia E, Pais de Barros JP, Duvillard L, Si-Tayeb K, Amigo N, Le Questel JY, Rensen PCN, Le May C, Moulin P, Cariou B. Dijk W, et al. Among authors: cariou b. Circulation. 2022 Sep 6;146(10):724-739. doi: 10.1161/CIRCULATIONAHA.121.057978. Epub 2022 Jul 28. Circulation. 2022. PMID: 35899625 Free PMC article.
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.
Cariou B, Ouguerram K, Zaïr Y, Guerois R, Langhi C, Kourimate S, Benoit I, Le May C, Gayet C, Belabbas K, Dufernez F, Chétiveaux M, Tarugi P, Krempf M, Benlian P, Costet P. Cariou B, et al. Arterioscler Thromb Vasc Biol. 2009 Dec;29(12):2191-7. doi: 10.1161/ATVBAHA.109.194191. Epub 2009 Sep 17. Arterioscler Thromb Vasc Biol. 2009. PMID: 19762784
PCSK9 is expressed in pancreatic delta-cells and does not alter insulin secretion.
Langhi C, Le May C, Gmyr V, Vandewalle B, Kerr-Conte J, Krempf M, Pattou F, Costet P, Cariou B. Langhi C, et al. Among authors: cariou b. Biochem Biophys Res Commun. 2009 Dec 25;390(4):1288-93. doi: 10.1016/j.bbrc.2009.10.138. Epub 2009 Oct 28. Biochem Biophys Res Commun. 2009. PMID: 19878649
Clinical aspects of PCSK9.
Cariou B, Le May C, Costet P. Cariou B, et al. Atherosclerosis. 2011 Jun;216(2):258-65. doi: 10.1016/j.atherosclerosis.2011.04.018. Epub 2011 Apr 22. Atherosclerosis. 2011. PMID: 21596380 Review.
343 results