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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
Hopkins PN, Defesche J, Fouchier SW, Bruckert E, Luc G, Cariou B, Sjouke B, Leren TP, Harada-Shiba M, Mabuchi H, Rabès JP, Carrié A, van Heyningen C, Carreau V, Farnier M, Teoh YP, Bourbon M, Kawashiri MA, Nohara A, Soran H, Marais AD, Tada H, Abifadel M, Boileau C, Chanu B, Katsuda S, Kishimoto I, Lambert G, Makino H, Miyamoto Y, Pichelin M, Yagi K, Yamagishi M, Zair Y, Mellis S, Yancopoulos GD, Stahl N, Mendoza J, Du Y, Hamon S, Krempf M, Swergold GD. Hopkins PN, et al. Among authors: cariou b. Circ Cardiovasc Genet. 2015 Dec;8(6):823-31. doi: 10.1161/CIRCGENETICS.115.001129. Epub 2015 Sep 15. Circ Cardiovasc Genet. 2015. PMID: 26374825 Free PMC article. Clinical Trial.
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
344 results