Upregulation of a nonsense mediated decay (NMD) insensitive CFTR mRNA isoform has therapeutic potential for the treatment of 3 Prime CFTR PTC variants
Norm Allaire, M. Armstrong, Jae Seok Yoon, Priyanka Bhatt, Jan Harrington, Yi Cheng, Hillary C. Valley, C. Macadino, Hermann J. Bihler, Andrey Sivachenko, Martin Mense, Calvin U. Cotton
The paper shows that upregulating an NMD-insensitive CFTR mRNA isoform with ASOs and ETI can restore partial Cl- transport function in cells with 3' PTC mutations.
bioRxiv · Jul 1, 2024 · PreprintGenomics