



@article {2182,
	title = {Cancer syndromes and therapy by stop-codon readthrough},
	journal = {Trends in Molecular MedicineTrends Mol. Med.},
	volume = {18},
	year = {2012},
	note = {Export Date: 21 November 2012Source: ScopusCODEN: TMMRCdoi: 10.1016/j.molmed.2012.09.004Language of Original Document: EnglishCorrespondence Address: Oliveira, C.; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), 4200-465 Porto, Portugal; email: carlaol@ipatimup.ptReferences: Linde, L., Kerem, B., Introducing sense into nonsense in treatments of human genetic diseases (2008) Trends Genet., 24, pp. 552-563;Isken, O., Maquat, L.E., The multiple lives of NMD factors: balancing roles in gene and genome regulation (2008) Nat. Rev. Genet., 9, pp. 699-712; 
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},
	month = {2012///},
	pages = {667 - 678},
	abstract = {Several hereditary cancer syndromes are associated with nonsense mutations that create premature termination codons (PTC). Therapeutic strategies involving readthrough induction partially restore expression of proteins with normal function from nonsense-mutated genes, and small molecules such as aminoglycosides and PTC124 have exhibited promising results for treating patients with cystic fibrosis and Duchenne muscular dystrophy. Transgenic expression of suppressor-tRNAs and depleting translation termination factors are, among others, potential strategies for treating PTC-associated diseases. In this review, the potential of using readthrough strategies as a therapy for cancer syndromes is discussed, and we consider the effect of nonsense-mediated decay and other factors on readthrough efficiency. {\textcopyright} 2012 Elsevier Ltd.},
	keywords = {Aminoglycosides, Hereditary cancer syndromes, Nonsense-mediated decay (NMD), Nonsense-suppression, Premature termination codon (PTC), PTC124, Readthrough, Suppressor-tRNA},
	isbn = {14714914 (ISSN)},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84868212770\&partnerID=40\&md5=93ff561cb7d1c818f78a88ec1555181e},
	author = {Bordeira-Carri{\c c}o, R. and P{\^e}go, A.P. and Santos, M. and Oliveira, C.}
}
