212 related articles for article (PubMed ID: 16224054)
1. Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response.
Naoumova RP; Tosi I; Patel D; Neuwirth C; Horswell SD; Marais AD; van Heyningen C; Soutar AK
Arterioscler Thromb Vasc Biol; 2005 Dec; 25(12):2654-60. PubMed ID: 16224054
[TBL] [Abstract][Full Text] [Related]
2. The proprotein convertase PCSK9 induces the degradation of low density lipoprotein receptor (LDLR) and its closest family members VLDLR and ApoER2.
Poirier S; Mayer G; Benjannet S; Bergeron E; Marcinkiewicz J; Nassoury N; Mayer H; Nimpf J; Prat A; Seidah NG
J Biol Chem; 2008 Jan; 283(4):2363-72. PubMed ID: 18039658
[TBL] [Abstract][Full Text] [Related]
3. 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
J Am Coll Cardiol; 2014 Jun; 63(22):2365-73. PubMed ID: 24632287
[TBL] [Abstract][Full Text] [Related]
4. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
Mabuchi H; Nohara A; Noguchi T; Kobayashi J; Kawashiri MA; Inoue T; Mori M; Tada H; Nakanishi C; Yagi K; Yamagishi M; Ueda K; Takegoshi T; Miyamoto S; Inazu A; Koizumi J;
Atherosclerosis; 2014 Sep; 236(1):54-61. PubMed ID: 25014035
[TBL] [Abstract][Full Text] [Related]
5. Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
Pisciotta L; Priore Oliva C; Cefalù AB; Noto D; Bellocchio A; Fresa R; Cantafora A; Patel D; Averna M; Tarugi P; Calandra S; Bertolini S
Atherosclerosis; 2006 Jun; 186(2):433-40. PubMed ID: 16183066
[TBL] [Abstract][Full Text] [Related]
6. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
Humphries SE; Whittall RA; Hubbart CS; Maplebeck S; Cooper JA; Soutar AK; Naoumova R; Thompson GR; Seed M; Durrington PN; Miller JP; Betteridge DJ; Neil HA;
J Med Genet; 2006 Dec; 43(12):943-9. PubMed ID: 17142622
[TBL] [Abstract][Full Text] [Related]
7. Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
Slimani A; Jelassi A; Jguirim I; Najah M; Rebhi L; Omezzine A; Maatouk F; Hamda KB; Kacem M; Rabès JP; Abifadel M; Boileau C; Rouis M; Slimane MN; Varret M
Atherosclerosis; 2012 May; 222(1):158-66. PubMed ID: 22417841
[TBL] [Abstract][Full Text] [Related]
8. Low-density lipoprotein receptor activity in Epstein-Barr virus-transformed lymphocytes from heterozygotes for the D374Y mutation in the PCSK9 gene.
Holla ØL; Cameron J; Berge KE; Kulseth MA; Ranheim T; Leren TP
Scand J Clin Lab Invest; 2006; 66(4):317-28. PubMed ID: 16777760
[TBL] [Abstract][Full Text] [Related]
9. Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.
Humphries SE; Neely RD; Whittall RA; Troutt JS; Konrad RJ; Scartezini M; Li KW; Cooper JA; Acharya J; Neil A
Clin Chem; 2009 Dec; 55(12):2153-61. PubMed ID: 19797716
[TBL] [Abstract][Full Text] [Related]
10. Targeting the proprotein convertase subtilisin/kexin type 9 for the treatment of dyslipidemia and atherosclerosis.
Urban D; Pöss J; Böhm M; Laufs U
J Am Coll Cardiol; 2013 Oct; 62(16):1401-8. PubMed ID: 23973703
[TBL] [Abstract][Full Text] [Related]
11. Increased secretion of lipoproteins in transgenic mice expressing human D374Y PCSK9 under physiological genetic control.
Herbert B; Patel D; Waddington SN; Eden ER; McAleenan A; Sun XM; Soutar AK
Arterioscler Thromb Vasc Biol; 2010 Jul; 30(7):1333-9. PubMed ID: 20448210
[TBL] [Abstract][Full Text] [Related]
12. Influence of PCSK9 polymorphisms on plasma lipids and response to atorvastatin treatment in Brazilian subjects.
Anderson JM; Cerda A; Hirata MH; Rodrigues AC; Dorea EL; Bernik MM; Bertolami MC; Faludi AA; Hirata RD
J Clin Lipidol; 2014; 8(3):256-64. PubMed ID: 24793346
[TBL] [Abstract][Full Text] [Related]
13. The severe hypercholesterolemia phenotype: clinical diagnosis, management, and emerging therapies.
Sniderman AD; Tsimikas S; Fazio S
J Am Coll Cardiol; 2014 May; 63(19):1935-47. PubMed ID: 24632267
[TBL] [Abstract][Full Text] [Related]
14. Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.
Benjannet S; Hamelin J; Chrétien M; Seidah NG
J Biol Chem; 2012 Sep; 287(40):33745-55. PubMed ID: 22875854
[TBL] [Abstract][Full Text] [Related]
15. 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
J Biol Chem; 2004 Nov; 279(47):48865-75. PubMed ID: 15358785
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
Leren TP
Clin Genet; 2004 May; 65(5):419-22. PubMed ID: 15099351
[TBL] [Abstract][Full Text] [Related]
17. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
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
Hum Mutat; 2005 Nov; 26(5):497. PubMed ID: 16211558
[TBL] [Abstract][Full Text] [Related]
18. The contribution of PCSK9 levels to the phenotypic severity of familial hypercholesterolemia is independent of LDL receptor genotype.
Drouin-Chartier JP; Tremblay AJ; Hogue JC; Ooi TC; Lamarche B; Couture P
Metabolism; 2015 Nov; 64(11):1541-7. PubMed ID: 26371983
[TBL] [Abstract][Full Text] [Related]
19. Internalized PCSK9 dissociates from recycling LDL receptors in PCSK9-resistant SV-589 fibroblasts.
Nguyen MA; Kosenko T; Lagace TA
J Lipid Res; 2014 Feb; 55(2):266-75. PubMed ID: 24296664
[TBL] [Abstract][Full Text] [Related]
20. Effects of pH and low density lipoprotein (LDL) on PCSK9-dependent LDL receptor regulation.
Fisher TS; Lo Surdo P; Pandit S; Mattu M; Santoro JC; Wisniewski D; Cummings RT; Calzetta A; Cubbon RM; Fischer PA; Tarachandani A; De Francesco R; Wright SD; Sparrow CP; Carfi A; Sitlani A
J Biol Chem; 2007 Jul; 282(28):20502-12. PubMed ID: 17493938
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
