UPF1 silenced cellular model systems for screening of read-through agents active on β039 thalassemia point mutation

UPF1 silenced cellular model systems for screening of read-through agents active on β039 thalassemia point mutation

Abstract 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 β039 thalassemia the CAG (glutamine) codon is mutated to the UAG stop codon, leading t...

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Bibliographic Details
Main Authors: Francesca Salvatori, Mariangela Pappadà, Giulia Breveglieri, Elisabetta D’Aversa, Alessia Finotti, Ilaria Lampronti, Roberto Gambari, Monica Borgatti
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Biotechnology
Subjects:
Read-through activity
UPF1
Nonsense-mediated mRNA decay
β thalassemia
Single point mutation
Online Access:http://link.springer.com/article/10.1186/s12896-018-0435-0

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http://link.springer.com/article/10.1186/s12896-018-0435-0

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