hnRNP A1 induces aberrant CFTR exon 9 splicing via a newly discovered Exonic Splicing Silencer element.
C. Beaumont, M.-Y. Chou, C. Stuani, E. Buratti, P. J. 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.
bioRxiv · Aug 24, 2023 · PreprintBiochemistry