Article
Functional rescue of F508del-CFTR through revertant mutations introduced by CRISPR base editing.
Molecular therapy : the journal of the American Society of Gene Therapy - 5 Mar 2025
Carrozzo Irene, Maule Giulia, Gentile Carmelo, Umbach Alessandro, Ciciani Matteo, Guidone Daniela, De Santis Martina, Petris Gianluca, Vicente Galietta Luis Juan, Arosio Daniele, Cereseto Anna
Abstract excerpt
Cystic fibrosis (CF) is a life-shortening autosomal recessive disease caused by mutations in the CFTR gene, resulting in functional impairment of the encoded ion channel. F508del mutation, a trinucleotide deletion, is the most frequent cause of CF, affecting approximately 80% of persons with CF (pwCFs). Even though current pharmacological treatments alleviate the F508del-CF disease symptoms, there is no...
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