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Functional correction of the untreatable CFTR 1717-1G>A mutation through mRNA- and sgRNA-optimized base editing.

Science translational medicine - 22 Apr 2026

Umbach Alessandro, Santini Annalisa, Bulcaen Mattijs, Guidone Daniela, Maule Giulia, Arosio Daniele, Carrozzo Irene, Ciciani Matteo, Brugnara Enrica, Ramalho Anabela, Vermeulen François, Galietta Luis J V, Carlon Marianne S, Cereseto Anna

Abstract excerpt

The 1717-1G>A is a prevalent splicing mutation causing cystic fibrosis (CF) for which no pharmacological treatments have been approved. This mutation disrupts a canonical 3' AG splice acceptor site in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to severe RNA missplicing, which prevents the correct synthesis of the encoded protein. In this study, we developed an adenine base...

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Base Sequence
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Gene Editing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA, Guide, CRISPR-Cas Systems

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Identifiers

PMID: 42018671
DOI: 10.1126/scitranslmed.adw8886

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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