UPF1 silenced cellular model systems for screening of read-through agents active on β(0)39 thalassemia point mutation

BACKGROUND: Nonsense mutations promote premature translational termination, introducing stop codons within the coding region of mRNAs and causing inherited diseases, including thalassemia. For instance, in β(0)39 thalassemia the CAG (glutamine) codon is mutated to the UAG stop codon, leading to prem...

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Publicado en:BMC Biotechnol
Autores principales: Salvatori, Francesca, Pappadà, Mariangela, Breveglieri, Giulia, D’Aversa, Elisabetta, Finotti, Alessia, Lampronti, Ilaria, Gambari, Roberto, Borgatti, Monica
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2018
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5952824/
https://ncbi.nlm.nih.gov/pubmed/29764417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12896-018-0435-0
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