The prevalent NR2E3 c.932G>A mutation induces aberrant splicing that can be rescued using splice-shifting antisense oligonucleotides
Yehezkel Sztainberg, Maya David Teitelbaum, Ilana Buchumenski, Hagit T. Porath, Dror Sharon, Eyal Banin, Rotem Karni, Erez Y. Levanon, Ariel Feiglin
This study identifies aberrant splicing caused by the NR2E3 c.932G>A mutation and shows that splice-shifting ASOs can restore full-length protein function.
bioRxiv · May 1, 2024 · PreprintGenomics