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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Abifadel M, et al. Among authors: benjannet s. Nat Genet. 2003 Jun;34(2):154-6. doi: 10.1038/ng1161. Nat Genet. 2003. PMID: 12730697
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.
Abifadel M, Guerin M, Benjannet S, Rabès JP, Le Goff W, Julia Z, Hamelin J, Carreau V, Varret M, Bruckert E, Tosolini L, Meilhac O, Couvert P, Bonnefont-Rousselot D, Chapman J, Carrié A, Michel JB, Prat A, Seidah NG, Boileau C. Abifadel M, et al. Among authors: benjannet s. Atherosclerosis. 2012 Aug;223(2):394-400. doi: 10.1016/j.atherosclerosis.2012.04.006. Epub 2012 May 17. Atherosclerosis. 2012. PMID: 22683120
NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol.
Benjannet S, Rhainds D, Essalmani R, Mayne J, Wickham L, Jin W, Asselin MC, Hamelin J, Varret M, Allard D, Trillard M, Abifadel M, Tebon A, Attie AD, Rader DJ, Boileau C, Brissette L, Chrétien M, Prat A, Seidah NG. Benjannet S, et al. J Biol Chem. 2004 Nov 19;279(47):48865-75. doi: 10.1074/jbc.M409699200. Epub 2004 Sep 9. J Biol Chem. 2004. PMID: 15358785 Free article.
A new method for measurement of total plasma PCSK9: clinical applications.
Dubuc G, Tremblay M, Paré G, Jacques H, Hamelin J, Benjannet S, Boulet L, Genest J, Bernier L, Seidah NG, Davignon J. Dubuc G, et al. Among authors: benjannet s. J Lipid Res. 2010 Jan;51(1):140-9. doi: 10.1194/jlr.M900273-JLR200. J Lipid Res. 2010. PMID: 19571328 Free PMC article.
101 results