Identification and validation of novel molecules obtained by integrated computational and experimental approaches for the readthrough of PTCs in CF cells

Risultato della ricerca: Paper

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.
Lingua originaleEnglish
Stato di pubblicazionePublished - 2014

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Factor IX
Cystic Fibrosis Transmembrane Conductance Regulator
Terminator Codon
Nonsense Codon
Cystic Fibrosis
Codon
Genes
ataluren
Proteins

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title = "Identification and validation of novel molecules obtained by integrated computational and experimental approaches for the readthrough of PTCs in CF cells",
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.",
author = "{Di Leonardo}, Aldo and Raffaella Melfi and Ivana Pibiri and Laura Lentini and Marco Tutone and Giampaolo Barone",
year = "2014",
language = "English",

}

TY - CONF

T1 - Identification and validation of novel molecules obtained by integrated computational and experimental approaches for the readthrough of PTCs in CF cells

AU - Di Leonardo, Aldo

AU - Melfi, Raffaella

AU - Pibiri, Ivana

AU - Lentini, Laura

AU - Tutone, Marco

AU - Barone, Giampaolo

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

UR - http://hdl.handle.net/10447/102071

M3 - Paper

ER -