Nonsense-Mediated mRNA Decay and Cystic Fibrosis

Methods in Molecular Biology

Volumn 741, Issue , 2011, Pages 137-154

  Linde, Liat ^a   Kerem, Batsheva ^a  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

gentamicin; nonsense mediated mRNA decay; Premature termination codons; PTC124; readthrough

Indexed keywords

ATALUREN; CHLORIDE; GENTAMICIN; MESSENGER RNA; OXADIAZOLE DERIVATIVE; TRANSACTIVATOR PROTEIN; TRANSCRIPTION FACTOR; TRANSMEMBRANE CONDUCTANCE REGULATOR; UPF1 PROTEIN, HUMAN; UPF2 PROTEIN, HUMAN;

ALLELE; ANIMAL; ARTICLE; CYSTIC FIBROSIS; DRUG EFFECT; GENETIC PROCEDURES; GENETIC TRANSFECTION; GENETICS; HUMAN; METABOLISM; NOSE MUCOSA; PATHOLOGY; PLASMID; STOP CODON; TUMOR CELL LINE; WESTERN BLOTTING;

ALLELES; ANIMALS; BLOTTING, WESTERN; CELL LINE, TUMOR; CHLORIDES; CODON, NONSENSE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC TECHNIQUES; GENTAMICINS; HUMANS; NASAL MUCOSA; OXADIAZOLES; PLASMIDS; RNA, MESSENGER; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS; TRANSFECTION;

EID: 80052324997     PISSN: 10643745     EISSN: 19406029     Source Type: Book Series    
DOI: 10.1007/978-1-61779-117-8_10     Document Type: Chapter

References (10)

1. Frischmeyer, P. A., and Dietz, H. C. (1999) Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet. 8, 1893–1900.
2. Hirawat, S., Welch, E. M., Elfring, G. L., Northcutt, V. J., Paushkin, S., Hwang, S. et al. (2007) Safety, tolerability, and pharma-cokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single-and multiple-dose administration to healthy male and female adult volunteers. J. Clin. Pharmacol. 47, 430–444.
3. Linde, L., and Kerem, B. (2008) Introducing sense into nonsense in treatments of human genetic diseases. Trends Genet. 24, 552–563.
4. Linde, L., Boelz, S., Nissim-Rafinia, M., Oren, Y. S., Wilschanski, M., Yaacov, Y. et al. (2007) Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J. Clin. Invest. 117, 683–692.
5. Zeitlin, P. L., Lu, L., Rhim, J., Cutting, G., Stetten, G., Kieffer, K. A. et al. (1991) A cystic fibrosis bronchial epithelial cell line: Immortalization by adeno-12-SV40 infection. Am. J. Respir. Cell Mol. Biol. 4, 313–319.
6. Yankaskas, J. R., Haizlip, J. E., Conrad, M., Koval, D., Lazarowski, E., Paradiso, A. M. et al. (1993) Papilloma virus immortalized tracheal epithelial cells retain a well-differentiated phenotype. Am. J. Physiol. 264, C1219–1230.
7. Lundberg, A. S., Randell, S. H., Stewart, S. A., Elenbaas, B., Hartwell, K. A., Brooks, M. W. et al. (2002) Immortalization and transformation of primary human airway epithelial cells by gene transfer. Oncogene 21, 4577–4586.
8. Nissim-Rafinia, M., Aviram, M., Randell, S. H., Shushi, L., Ozeri, E., Chiba-Falek, O. et al. (2004) Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation. EMBO Rep. 5, 1071–1077.
9. Linde, L., Boelz, S., Neu-Yilik, G., Kulozik, A. E., and Kerem, B. (2007) The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells. Eur. J. Hum. Genet. 15, 1156–1162.
10. Kerem, E., Hirawat, S., Armoni, S., Yaakov, Y., Shoseyov, D., Cohen, M. et al. (2008) Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: A prospective phase II trial. Lancet 372, 719–727.