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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: wickham l. Nat Genet. 2003 Jun;34(2):154-6. doi: 10.1038/ng1161. Nat Genet. 2003. PMID: 12730697
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. Among authors: wickham l. 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.
Post-translational processing of beta-secretase (beta-amyloid-converting enzyme) and its ectodomain shedding. The pro- and transmembrane/cytosolic domains affect its cellular activity and amyloid-beta production.
Benjannet S, Elagoz A, Wickham L, Mamarbachi M, Munzer JS, Basak A, Lazure C, Cromlish JA, Sisodia S, Checler F, Chrétien M, Seidah NG. Benjannet S, et al. Among authors: wickham l. J Biol Chem. 2001 Apr 6;276(14):10879-87. doi: 10.1074/jbc.M009899200. Epub 2001 Jan 10. J Biol Chem. 2001. PMID: 11152688 Free article.
133 results