Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia

Clinical Genetics

Volumn 65, Issue 5, 2004, Pages 419-422

  Leren, Trond P ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Cholesterol; Familial hypercholesterolemia; Gene; Mutation; PCSK9

Indexed keywords

APOLIPOPROTEIN B100; CHOLESTEROL; DNA; LOW DENSITY LIPOPROTEIN RECEPTOR; SUBTILISIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHOLESTEROL SYNTHESIS; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVE SITE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NORWAY; PATHOGENESIS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHOLESTEROL; FEMALE; GENES, DOMINANT; HUMANS; HYPERCHOLESTEROLEMIA; MALE; MIDDLE AGED; MUTATION; NORWAY; SERINE ENDOPEPTIDASES;

EID: 2442670243     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.0238.x     Document Type: Article

References (17)

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: The metabolic basis of inherited disease (Scriver CR, Beaudet AL, Sly WS, Valle D, eds). New York: McGraw-Hill, 2001: 2863-2913.
2. Slack J. Risks of ischaemic heart disease in familial hyperlipoproteinaemic states. Lancet 1969: ii: 1380-1382.
3. Marks D, Thorogood M, Neil HAW, Humphries S. A review on the diagnosis, natural history, and treatment of familial hypercholesterolemia. Atherosclerosis 2003: 168: 1-14.
4. Innerarity TL, Mahley RW, Weisgraber KH et al. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res 1990: 31: 1337-1350.
5. Varret M, Rabes JP, Saint-Jore B et al. A third locus for autosomal dominant hypercholesterolemia maps to 1p34-1p32. Am J Hum Genet 1999: 64: 1378-1387.
6. Hunt SC, Hopkins PN, Bulka K et al. Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. Arterioscler Thromb Vasc Biol 2000: 20: 1089-1093.
7. Abifadel M, Varret M, Rabes JP et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003: 34: 154-156.
8. 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: 928-933.
9. Maxwell KN, Soccio RE, Cuncan EM et al. Novel putative SREBP and LXR target genes identified by microarray analysis in liver of cholesterol-fed mice. J Lipid Res. (available from: http://www.jlr.org/cgi/reprint/M300203-JLR200v1).
10. Study Group European Atherosclerosis Society. The recognition and management of hyperlipidaemia in adults: a policy statement of the European Atherosclerosis Society. Eur Heart J 1988: 9: 571-600.
11. Rødningen OK, Leren TP. Application of long polymerase chain reaction in the study of the LDL receptor gene. Scand J Clin Lab Invest 1996: 65: 93-96.
12. Hansen PS, Rüdiger N, Tybjærg-Hansen A et al. Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI. J Lipid Res 1991: 32: 1229-1233.
13. Brown MS, Goldstein JL. A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood. Proc Natl Acad Sci USA 1999: 96: 11041-11048.
14. Horton J, Shimomura I. Sterol regulatory element-binding proteins: activators of cholesterol and fatty acid biosynthesis. Curr Opin Lipidol 1999: 10: 143-150.
15. Havel RJ, Kane JP. Introduction: structure and metabolism of plasma lipoproteins. In: The metabolic basis of inherited disease (Scriver CR, Beaudet AL, Sly WS, Valle D, eds). New York: McGraw-Hill, 2001: 2705-2716.
16. Sparks JD, Corsetti JP, Sparks CE. Liver regrowth and apolipoprotein B secretion by rat hepatocytes following partial hepatectomy. Metabolism 1994: 43: 681-690.
17. Elagoz A, Benjannet S, Mammarbassi A et al. Biosynthesis and cellular trafficking of the convertase SKI-1/S1P: ectodomain shedding requires SKI-1 activity. J Biol Chem 2002: 277: 11265-11275.