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Tang, P. PCSK9 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/6005 (accessed on 20 September 2026).
Tang P. PCSK9 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/6005. Accessed September 20, 2026.
Tang, Peter. "PCSK9 Gene" Encyclopedia, https://encyclopedia.pub/entry/6005 (accessed September 20, 2026).
Tang, P. (2021, January 04). PCSK9 Gene. In Encyclopedia. https://encyclopedia.pub/entry/6005
Tang, Peter. "PCSK9 Gene." Encyclopedia. Web. 04 January, 2021.
PCSK9 Gene
Edit

Proprotein convertase subtilisin/kexin type 9

genes

References

  1. 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, PratA, Krempf M, Junien C, Seidah NG, Boileau C. Mutations in PCSK9 cause autosomaldominant hypercholesterolemia. Nat Genet. 2003 Jun;34(2):154-6. Citation on PubMed
  2. Allard D, Amsellem S, Abifadel M, Trillard M, Devillers M, Luc G, Krempf M,Reznik Y, Girardet JP, Fredenrich A, Junien C, Varret M, Boileau C, Benlian P,Rabès JP. Novel mutations of the PCSK9 gene cause variable phenotype of autosomaldominant hypercholesterolemia. Hum Mutat. 2005 Nov;26(5):497. Erratum in: HumMutat. 2005 Dec;26(6):592. Citation on PubMed
  3. Berge KE, Ose L, Leren TP. Missense mutations in the PCSK9 gene are associatedwith hypocholesterolemia and possibly increased response to statin therapy.Arterioscler Thromb Vasc Biol. 2006 May;26(5):1094-100. Epub 2006 Jan 19. Citation on PubMed
  4. Cameron J, Holla ØL, Ranheim T, Kulseth MA, Berge KE, Leren TP. Effect ofmutations in the PCSK9 gene on the cell surface LDL receptors. Hum Mol Genet.2006 May 1;15(9):1551-8. Epub 2006 Mar 28. Citation on PubMed
  5. Chen SN, Ballantyne CM, Gotto AM Jr, Tan Y, Willerson JT, Marian AJ. A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, isa novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis. J Am Coll Cardiol. 2005 May17;45(10):1611-9. Epub 2005 Apr 21. Citation on PubMed or Free article on PubMed Central
  6. 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 Mar23;354(12):1264-72. Citation on PubMed
  7. 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, CarreauV, 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, MakinoH, 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. Characterization ofAutosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of FunctionMutations and Its Specific Treatment With Alirocumab, a PCSK9 MonoclonalAntibody. Circ Cardiovasc Genet. 2015 Dec;8(6):823-31. doi:10.1161/CIRCGENETICS.115.001129. Epub 2015 Sep 15. Citation on PubMed or Free article on PubMed Central
  8. Horton JD, Cohen JC, Hobbs HH. Molecular biology of PCSK9: its role in LDLmetabolism. Trends Biochem Sci. 2007 Feb;32(2):71-7. Epub 2007 Jan 9. Review. Citation on PubMed or Free article on PubMed Central
  9. Kotowski IK, Pertsemlidis A, Luke A, Cooper RS, Vega GL, Cohen JC, Hobbs HH. Aspectrum of PCSK9 alleles contributes to plasma levels of low-density lipoproteincholesterol. Am J Hum Genet. 2006 Mar;78(3):410-22. Epub 2006 Jan 20. Citation on PubMed or Free article on PubMed Central
  10. Maxwell KN, Breslow JL. Proprotein convertase subtilisin kexin 9: the thirdlocus implicated in autosomal dominant hypercholesterolemia. Curr Opin Lipidol.2005 Apr;16(2):167-72. Review. Citation on PubMed
  11. Maxwell KN, Fisher EA, Breslow JL. Overexpression of PCSK9 accelerates thedegradation of the LDLR in a post-endoplasmic reticulum compartment. Proc NatlAcad Sci U S A. 2005 Feb 8;102(6):2069-74. Epub 2005 Jan 27. Citation on PubMed or Free article on PubMed Central
  12. Zhao Z, Tuakli-Wosornu Y, Lagace TA, Kinch L, Grishin NV, Horton JD, Cohen JC,Hobbs HH. Molecular characterization of loss-of-function mutations in PCSK9 andidentification of a compound heterozygote. Am J Hum Genet. 2006 Sep;79(3):514-23.Epub 2006 Jul 18. Citation on PubMed or Free article on PubMed Central
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