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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Detalles Bibliográficos
Autores principales: Salvatori, Francesca, Pappadà, Mariangela, Breveglieri, Giulia, D’Aversa, Elisabetta, Finotti, Alessia, Lampronti, Ilaria, Gambari, Roberto, Borgatti, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952824/
https://www.ncbi.nlm.nih.gov/pubmed/29764417
http://dx.doi.org/10.1186/s12896-018-0435-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952824/
https://www.ncbi.nlm.nih.gov/pubmed/29764417
http://dx.doi.org/10.1186/s12896-018-0435-0

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