Cystic Fibrosis patients with nonsense-mutation in h-CFTR gene generally make virtually no CFTR protein and thus often have a more severe form of CF. Ataluren (PTC124) was suggested to induce read-through of premature but not normal termination codons. Despite the promising results there is not a general consensus on the mechanism of its action (protein stabilization or codon read-through) and its efficacy, the identification of new PTC124 analogues and the study of the mechanism of action may led to a new strategy for the development of a pharmacologic approach to the cure of CF.
Lentini, L., Pibiri, I., Melfi, R., Tutone, M., Pace, A., Barone, G., et al. (2014). Identification and validation of novel molecules obtained by integrated computational and experimental approaches for the readthrough of PTCs in CF cells. In XII Convention d'Autunno dei ricercatori in fibrosi cistica.
Identification and validation of novel molecules obtained by integrated computational and experimental approaches for the readthrough of PTCs in CF cells
LENTINI, Laura;PIBIRI, Ivana;MELFI, Raffaella;TUTONE, Marco;PACE, Andrea;BARONE, Giampaolo;DI LEONARDO, Aldo
2014-01-01
Abstract
Cystic Fibrosis patients with nonsense-mutation in h-CFTR gene generally make virtually no CFTR protein and thus often have a more severe form of CF. Ataluren (PTC124) was suggested to induce read-through of premature but not normal termination codons. Despite the promising results there is not a general consensus on the mechanism of its action (protein stabilization or codon read-through) and its efficacy, the identification of new PTC124 analogues and the study of the mechanism of action may led to a new strategy for the development of a pharmacologic approach to the cure of CF.
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