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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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Biotechnol
Auteurs principaux: Salvatori, Francesca, Pappadà, Mariangela, Breveglieri, Giulia, D’Aversa, Elisabetta, Finotti, Alessia, Lampronti, Ilaria, Gambari, Roberto, Borgatti, Monica
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Research Article
Accès en ligne: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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