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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: marais ad. 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.
Elevated plasma PCSK9 level is equally detrimental for patients with nonfamilial hypercholesterolemia and heterozygous familial hypercholesterolemia, irrespective of low-density lipoprotein receptor defects.
Lambert G, Petrides F, Chatelais M, Blom DJ, Choque B, Tabet F, Wong G, Rye KA, Hooper AJ, Burnett JR, Barter PJ, Marais AD. Lambert G, et al. Among authors: marais ad. J Am Coll Cardiol. 2014 Jun 10;63(22):2365-73. doi: 10.1016/j.jacc.2014.02.538. Epub 2014 Mar 12. J Am Coll Cardiol. 2014. PMID: 24632287 Free article.
Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town.
Huijgen R, Blom DJ, Hartgers ML, Chemello K, Benito-Vicente A, Uribe KB, Behardien Z, Blackhurst DM, Brice BC, Defesche JC, de Jong AG, Jooste RJ, Solomon GAE, Wolmarans KH, Hovingh GK, Martin C, Lambert G, Marais AD. Huijgen R, et al. Among authors: marais ad. Arterioscler Thromb Vasc Biol. 2021 Feb;41(2):934-943. doi: 10.1161/ATVBAHA.120.314482. Epub 2020 Nov 5. Arterioscler Thromb Vasc Biol. 2021. PMID: 33147992 Free article.
Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa.
Homer VM, Marais AD, Charlton F, Laurie AD, Hurndell N, Scott R, Mangili F, Sullivan DR, Barter PJ, Rye KA, George PM, Lambert G. Homer VM, et al. Among authors: marais ad. Atherosclerosis. 2008 Feb;196(2):659-66. doi: 10.1016/j.atherosclerosis.2007.07.022. Epub 2007 Aug 31. Atherosclerosis. 2008. PMID: 17765244
Normalization of low-density lipoprotein receptor expression in receptor defective homozygous familial hypercholesterolemia by inhibition of PCSK9 with alirocumab.
Lambert G, Chatelais M, Petrides F, Passard M, Thedrez A, Rye KA, Schwahn U, Gusarova V, Blom DJ, Sasiela W, Marais AD. Lambert G, et al. Among authors: marais ad. J Am Coll Cardiol. 2014 Dec 2;64(21):2299-300. doi: 10.1016/j.jacc.2014.07.995. Epub 2014 Nov 24. J Am Coll Cardiol. 2014. PMID: 25456764 Free article. No abstract available.
The impact of partial and complete loss-of-function mutations in endothelial lipase on high-density lipoprotein levels and functionality in humans.
Singaraja RR, Sivapalaratnam S, Hovingh K, Dubé MP, Castro-Perez J, Collins HL, Adelman SJ, Riwanto M, Manz J, Hubbard B, Tietjen I, Wong K, Mitnaul LJ, van Heek M, Lin L, Roddy TA, McEwen J, Dallinge-Thie G, van Vark-van der Zee L, Verwoert G, Winther M, van Duijn C, Hofman A, Trip MD, Marais AD, Asztalos B, Landmesser U, Sijbrands E, Kastelein JJ, Hayden MR. Singaraja RR, et al. Among authors: marais ad. Circ Cardiovasc Genet. 2013 Feb;6(1):54-62. doi: 10.1161/CIRCGENETICS.111.962613. Epub 2012 Dec 14. Circ Cardiovasc Genet. 2013. PMID: 23243195 Free article.
154 results