Pcsk9, du gène à la protéine un nouvel acteur dans l’homéostasie du cholestérol

Medecine/Sciences

Volumn 22, Issue 11, 2006, Pages 916-918

  Abifadel, Marianne ^a,b,c,d   Varret, Mathilde ^a,c   Boileau, Catherine ^a,c,e,f  

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d SAINT JOSEPH UNIVERSITY   (Lebanon)

^e HÔPITAL AMBROISE PARÉ   (France)

^f LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; PCSK9 PROTEIN, HUMAN; SERINE PROTEINASE;

ARTICLE; GENE EXPRESSION REGULATION; GENETIC VARIABILITY; GENETICS; HOMEOSTASIS; HUMAN; HYPERCHOLESTEROLEMIA; METABOLISM; MUTATION; PROTEIN SYNTHESIS;

CHOLESTEROL; GENE EXPRESSION REGULATION; HOMEOSTASIS; HUMANS; HYPERCHOLESTEROLEMIA; MUTATION; PROTEIN BIOSYNTHESIS; SERINE ENDOPEPTIDASES; VARIATION (GENETICS);

EID: 34547748637     PISSN: 07670974     EISSN: 19585381     Source Type: Journal    
DOI: 10.1051/medsci/20062211916     Document Type: Article

References (18)

1. Abifadel M, Varret M, Rabes JP, et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003; 34: 154-6.
2. Seidah NG, Benjannet S, Wickham L, et al. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. Proc Natl Acad Sci USA 2003; 100:928-33.
3. Allard D, Amsellem S, Abifadel M, et al. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum Mutat 2005; 26: 497.
4. Timms KM, Wagner S, Samuels ME, et al. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet 2004; 114: 349-53.
5. Leren TP. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Clin Genet 2004; 65: 419-22.
6. Naoumova RP, Tosi I, Patel D, et al. Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response. Arterioscler Thromb Vasc Biol 2005; 25: 2654-60.
7. Pisciotta L, Oliva CP, Cefalu AB, et al. Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia. Atherosclerosis 2006; 186: 433-40.
8. Cohen J, Pertsemlidis A, Kotowski IK, et al. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 2005; 37: 161-5.
9. Kotowski IK, Pertsemlidis A, Luke A, et al. A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am J Hum Genet 2006; 78: 410-22.
10. Berge KE, Ose L, Leren TP. Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy. Arterioscler Thromb Vasc Biol 2006; 26: 1094-100.
11. Yue P, Averna M, Lin X, Schonfeld G. The c.43-44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population. Hum Mutat 2006; 27: 460-6.
12. Shioji K, Mannami T, Kokubo Y, et al. Genetic variants in PCSK9 affect the cholesterol level in Japanese. J Hum Genet 2004; 49: 109-14.
13. Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 2006; 354: 1264-72.
14. Cameron J, Holla OL, Ranheim T, et al. Effect of mutations in the PCSK9 gene on the cell surface LDL receptors. Hum Mol Genet 2006; 15: 1551-8.
15. Maxwell KN, Breslow JL. Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia. Curr Opin Lipidol 2005; 16: 167-72.
16. Rashid S, Curtis DE, Garuti R, et al. Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9. Proc Natl Acad Sci USA 2005; 102: 5374-9.
17. Ouguerram K, Chetiveaux M, Zair Y, et al. Apolipoprotein B100 metabolism in autosomaldominant hypercholesterolemia related to mutations in PCSK9. Arterioscler Thromb Vasc Biol 2004; 24: 1448-53.
18. Dubuc G, Chamberland A, Wassef H, et al. Statins upregulate PCSK9, the gene encoding the proprotein convertase neural apoptosis-regulated convertase-1 implicated in familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2004; 24: 1454-9.