Article
Site-Specific RNA Editing of Stop Mutations in the CFTR mRNA of Human Bronchial Cultured Cells.
International journal of molecular sciences - 30 Jun 2023
Chiavetta Roberta F, Titoli Simona, Barra Viviana, Cancemi Patrizia, Melfi Raffaella, Di Leonardo Aldo
Abstract excerpt
It is reported that about 10% of cystic fibrosis (CF) patients worldwide have nonsense (stop) mutations in the CFTR gene, which cause the premature termination of CFTR protein synthesis, leading to a truncated and non-functional protein. To address this issue, we investigated the possibility of rescuing the CFTR nonsense mutation (UGA) by sequence-specific RNA editing in CFTR mutant CFF-16HBEge, W1282X, and G542X...
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