Low‐density lipoprotein receptor activity in Epstein‐Barr virus‐transformed lymphocytes from heterozygotes for the D374Y mutation in the PCSK9 gene

References

• Goldstein J. L., Hobbs H. H., Brown M. S. Familial hypercholesterolemia. The metabolic basis of inherited disease, C. R Scriver, A. L Beaudet, W. S Sly, D Valle. McGraw‐Hill, New York 2001; 2863–913
   Google Scholar
• Innerarity T. L., Mahley R. W., Weisgraber K. H., et al. Familial defective apolipoprotein B‐100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res 1990; 31: 1337–49
   PubMedGoogle Scholar
• Abifadel M., Varret M., Rabes J. P., et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003; 34: 154–6
   PubMed Web of Science ®Google Scholar
• Timms K. M., Wagner S., Samuels M. E., et al. A mutation in PCSK9 causing autosomal‐dominant hypercholesterolemia in a Utah pedigree. Hum Genet 2004; 114: 349–53
   PubMed Web of Science ®Google Scholar
• Leren T. P. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Clin Genet 2004; 65: 419–22
   PubMed Web of Science ®Google Scholar
• Sun X. M., Eden E. R., Tosi I., Neuwirth C. K., Wile D., Naoumova R. P., et al. Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. Hum Mol Genet 2005; 14: 1161–9
   PubMed Web of Science ®Google Scholar
• Damgaard D., Jensen J. M., Larsen M. L., et al. No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the familial hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes. Atherosclerosis 2004; 177: 415–22
   PubMedGoogle Scholar
• Boren J., Ekstrom U., Agren B., Nilsson‐Ehle P., Innerarity T. L. The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. J Biol Chem 2001; 276: 9214–8
   PubMedGoogle Scholar
• Seidah N. G., 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
   PubMed Web of Science ®Google Scholar
• Maxwell K. N., Soccio R. E., Duncan E. M., Sehayek E., Breslow J. L. Novel putative SREBP and LXR target genes identified by microarray analysis in liver of cholesterol‐fed mice. J Lipid Res 2003; 44: 2109–19
   PubMed Web of Science ®Google Scholar
• Horton J. D., Shah N. A., Warrington J. A., Anderson N. N., Park S. W., Brown M. S., et al. Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes. Proc Natl Acad Sci USA 2003; 100: 12027–32
   PubMed Web of Science ®Google Scholar
• Maxwell K. N., Breslow J. L. Adenoviral‐mediated expression of Pcsk9 in mice results in a low‐density lipoprotein receptor knockout phenotype. Proc Natl Acad Sci USA 2004; 101: 7100–5
   PubMed Web of Science ®Google Scholar
• Park S. W., Moon Y. A., Horton J. D. Post‐transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver. J Biol Chem 2004; 279: 50630–8
   PubMed Web of Science ®Google Scholar
• Benjannet S., Rhainds D., Essalmani R., et al. NARC‐1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol. J Biol Chem 2004; 279: 48865–75
   PubMed Web of Science ®Google Scholar
• Maxwell K. N., Fisher E. A., Breslow J. L. Overexpression of PCSK9 accelerates the degradation of the LDLR in a post‐endoplasmic reticulum compartment. Proc Natl Acad Sci USA 2005; 102: 2069–74
   PubMed Web of Science ®Google Scholar
• Cohen J., Pertsemlidis A., Kotowski I. K., Graham R., Garcia C. K., Hobbs H. H. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 2005; 37: 161–5
   PubMed Web of Science ®Google Scholar
• Ouguerram K., Chetiveaux M., Zair Y., et al. Apolipoprotein B100 metabolism in autosomal‐dominant hypercholesterolemia related to mutations in PCSK9. Arterioscler Thromb Vasc Biol 2004; 24: 1448–53
   PubMed Web of Science ®Google Scholar
• Naoumova R. P., 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
   PubMed Web of Science ®Google Scholar
• Harper L. V., Hilton A. C., Jones A. F. RT‐PCR for the pseudogene‐free amplification of the glyceraldehyde‐3‐phosphate dehydrogenase gene (GAPDH). Mol Cell Probes 2003; 17: 261–5
   PubMedGoogle Scholar
• Wall F. E., Henkel R. D., Stern M. P., Jenson H. B., Moyer M. P. An efficient method for routine Epstein‐Barr virus immortalization of human B lymphocytes. In Vitro Cell Dev Biol Anim 1995; 31: 156–9
   PubMed Web of Science ®Google Scholar
• Leren T. P., Solberg K., Rodningen O. K., Tonstad S., Ose L. Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 1994; 111: 175–82
   PubMed Web of Science ®Google Scholar
• Maartmann‐Moe K., Berg‐Johnsen P. Genetics of the low density lipoprotein receptor: I. Low density lipoprotein receptor activity in cultured fibroblasts from subjects with or without familial hypercholesterolemia. Clin Genet 1981; 20: 90–103
   PubMed Web of Science ®Google Scholar
• Brown M. S., Goldstein J. L. A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood. Proc Natl Acad Sci USA 1999; 96: 11041–8
   PubMed Web of Science ®Google Scholar
• Elagoz A., Benjannet S., Mammarbassi A., Wickham L., Seidah N. G. Biosynthesis and cellular trafficking of the convertase SKI‐1/S1P: ectodomain shedding requires SKI‐1 activity. J Biol Chem 2002; 277: 11265–75
   PubMed Web of Science ®Google Scholar
• Varret M., Rabes J. P., Saint‐Jore B., et al. A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1‐p32. Am J Hum Genet 1999; 64: 1378–87
   PubMed Web of Science ®Google Scholar