Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in ABCA4
Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard J. Platenburg, Jim Swildens
This study demonstrates that antisense oligonucleotides can correct splicing defects in the ABCA4 c.5461-10T>C variant, restoring protein function in retinal organoids.
bioRxiv · Aug 12, 2022 · PreprintMolecular Biology