BiochemistryLife Science AlliancePeer-reviewed
hnRNP A1 induces aberrant CFTR exon 9 splicing via a newly discovered Exonic Splicing Silencer element.
Christelle Beaumont, Cristiana Stuani, Ming-Yuan Chou…·Peter Josef Lukavsky
This study identifies an exonic splicing silencer element in CFTR exon 9 that is bound by hnRNP A1, leading to exon skipping and non-functional CFTR protein.