Nonsense‐mediated decay of human LDL receptor mRNA

References

• Müller C. Xanthomata, hypercholesterolemia, angina pectoris. Acta Med Scand 1938; 89: 74–85
   Google Scholar
• Goldstein J. L., Basu S. K., Brown M. S. Receptor‐mediated endocytosis of low‐density lipoprotein in cultured cells. Methods Enzymol 1983; 98: 241–60
   PubMed Web of Science ®Google Scholar
• Goldstein J. L., Brown M. S. Molecular medicine. The cholesterol quartet. Science 2001; 292: 1310–12
   PubMed Web of Science ®Google Scholar
• Culbertson M. R. RNA surveillance – unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 1999; 15: 74–80
   PubMed Web of Science ®Google Scholar
• Byers P. H. Killing the messenger: new insights into nonsense‐mediated mRNA decay. J Clin Invest 2002; 109: 3–6
   PubMed Web of Science ®Google Scholar
• Brooks D. A., Muller V. J., Hopwood J. J. Stop‐codon read‐through for patients affected by a lysosomal storage disorder. Trends Mol Med 2006; 12: 367–73
   PubMed Web of Science ®Google Scholar
• Kuzmiak H. A., Maquat L. E. Applying nonsense‐mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 2006; 12: 306–16
   PubMed Web of Science ®Google Scholar
• Holbrook J. A., Neu‐Yilik G., Hentze M. W., Kulozik A. E. Nonsense‐mediated decay approaches the clinic. Nat Genet 2004; 36: 801–8
   PubMed Web of Science ®Google Scholar
• Weiss N., Binder G., Keller C. Mutations in the low‐density‐lipoprotein receptor gene in German patients with familial hypercholesterolaemia. J Inherit Metab Dis 2000; 23: 778–90
   PubMed Web of Science ®Google Scholar
• Dedoussis G. V. Z., Skoumas J., Pitsavos C., Choumerianou D. M., Genschel J., Schmidt H., Stefanadis C. FH clinical phenotype in Greek patients with LDL‐R defective vs. negative mutations. Eur J Clin Invest 2004; 34: 402–9
   PubMed Web of Science ®Google Scholar
• Maquat L. E. Nonsense‐mediated mRNA decay in mammals. J Cell Sci 2005; 118: 1773–6
   PubMed Web of Science ®Google Scholar
• Carter M. S., Doskow J., Morris P., Li S. L., Nhim R. P., Sandstedt S., Wilkinson M. F. A regulatory mechanism that detects premature nonsense codons in T‐cell receptor transcripts in‐vivo is reversed by protein‐synthesis inhibitors in‐vitro. J Biol Chem 1995; 270: 28995–9003
   PubMed Web of Science ®Google Scholar
• Martin R., Mogg A. E., Heywood L. A., Nitschke L., Burke J. F. Aminoglycoside suppression at Uag, Uaa and Uga codons in Escherichia‐coli and human‐tissue culture cells. Molec Gen Genet 1989; 217: 411–18
   PubMedGoogle Scholar
• Nagy E., Maquat L. E. A rule for termination‐codon position within intron‐containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998; 23: 198–9
   PubMed Web of Science ®Google Scholar
• Wilschanski M., Yahav Y., Yaacov Y., Blau H., Bentur L., Rivlin J., Aviram M., Bdolah‐Abram T., Bebok Z., Shushi L., Kerem B., Kerem E. Gentamicin‐induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003; 349: 1433–41
   PubMed Web of Science ®Google Scholar
• Linde L., Boelz S., Nissim‐Rafinia M., Oren Y. S., Wilschanski M., Yaacov Y., Virgilis D., Neu‐Yilik G., Kulozik A. E., Kerem E., Kerem B. Nonsense‐mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J Clin Invest 2007; 117: 683–92
   PubMed Web of Science ®Google Scholar
• Leren T. P., Tonstad S., Gundersen K. E., Bakken K. S., Rodningen O. K., Sundvold H., Ose L., Berg K. Molecular genetics of familial hypercholesterolaemia in Norway. J Intern Med 1997; 241: 185–94
   PubMed Web of Science ®Google Scholar
• Leren T. P., Sundvold H., Rodningen O. K., Tonstad S., Solberg K., Ose L., Berg K. Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia. Hum Genet 1995; 95: 671–6
   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
• 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
• Neitzel H. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 1986; 73: 320–6
   PubMed Web of Science ®Google Scholar
• Beisiegel U., Schneider W. J., Goldstein J. L., Anderson R. G., Brown M. S. Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor‐mediated endocytosis and the genetics of familial hypercholesterolemia. J Biol Chem 1981; 256: 11923–31
   PubMed Web of Science ®Google Scholar
• Church G. M., Gilbert W. Genomic sequencing. Proc Natl Acad Sci USA 1984; 81: 1991–5
   PubMed Web of Science ®Google Scholar
• Peacock S. L., Bates M. P., Russell D. W., Brown M. S., Goldstein J. L. Human low density lipoprotein receptor expressed in Xenopus oocytes. Conserved signals for O‐linked glycosylation and receptor‐mediated endocytosis. J Biol Chem 1988; 263: 7838–45
   PubMed Web of Science ®Google Scholar
• Noensie E. N., Dietz H. C. A strategy for disease gene identification through nonsense‐mediated mRNA decay inhibition. Nature Biotechnol 2001; 19: 434–9
   PubMed Web of Science ®Google Scholar
• Mankin A. S., Liebman S. W. Baby, don't stop!. Nat Genet 1999; 23: 8–10
   PubMed Web of Science ®Google Scholar
• Wagner E., Lykke‐Andersen J. mRNA surveillance: the perfect persist. J Cell Sci 2002; 115: 3033–8
   PubMed Web of Science ®Google Scholar
• Maquat L. E. Nonsense‐mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Molec Cell Biol 2004; 5: 89–99
   PubMed Web of Science ®Google Scholar
• Wilkinson M. F. A new function for nonsense‐mediated mRNA‐decay factors. Trends Genet 2005; 21: 143–8
   PubMed Web of Science ®Google Scholar
• Khajavi M., Inoue K., Lupski J. R. Nonsense‐mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 2006; 14: 1074–81
   PubMed Web of Science ®Google Scholar
• Begg E. J., Barclay M. L. Aminoglycosides – 50 years on. Br J Clin Pharmacol 1995; 39: 597–603
   PubMed Web of Science ®Google Scholar
• Brown M. S., Goldstein J. L. A receptor‐mediated pathway for cholesterol homeostasis. Science 1986; 232: 34–47
   PubMed Web of Science ®Google Scholar
• Goldstein J. L., Brown M. S. Regulation of the mevalonate pathway. Nature 1990; 343: 425–30
   PubMed Web of Science ®Google Scholar