Modulating splicing in five prime untranslated regions to treat rare haploinsufficient disease
Eloise S. Beer Wells, Laura De Conti, Hyung Chul Kim, Narjes Rohani, V. Kartik Chundru, Laura M. Watts, Ruebena Dawes, Yuyang Chen, Alexandra C Martin-Geary, Michael J. Griffiths, Sam Scott, Rosemary A. Bamford, Jonathan S. Mill, Caroline F. Wright, Marco Baralle, , Nicola Whiffin
This study identifies 5'UTR exons containing uORFs as targets for splice-switching to increase protein translation in haploinsufficient disease genes.
bioRxiv · Dec 9, 2025 · PreprintGenomics