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Investigating the Inhibition of FTSJ1, a Tryptophan tRNA-Specific 2′-O-Methyltransferase by NV TRIDs, as a Mechanism of Readthrough in Nonsense Mutated CFTR

Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, coding for the CFTR chloride channel. About 10% of the CFTR gene mutations are “stop” mutations that generate a premature termination codon (PTC), thus synthesizing a truncated CFTR protein. A way to...

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Detalles Bibliográficos
Autores principales: Carollo, Pietro Salvatore, Tutone, Marco, Culletta, Giulia, Fiduccia, Ignazio, Corrao, Federica, Pibiri, Ivana, Di Leonardo, Aldo, Zizzo, Maria Grazia, Melfi, Raffaella, Pace, Andrea, Almerico, Anna Maria, Lentini, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10253411/
https://www.ncbi.nlm.nih.gov/pubmed/37298560
http://dx.doi.org/10.3390/ijms24119609