Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity.
Harikiran Nistala, John Dronzek, Claudia G. Gonzaga-Jauregui, Shek Man Chim, Saathyaki Rajamani, Samer J. Nuwayhid, Dennis Delgado, Elizabeth A. Burke, Ender Karaca, Matthew C. Franklin, Prasad S. Sarangapani, Michael S. Podgorski, Yajun Tang, Melissa G. Dominguez, Marjorie A. Withers, , Aris N. Economides
The paper investigates PRUNE1 variants causing NMIHBA, showing they disrupt exopolyphosphatase activity and lead to neurodevelopmental defects in mice.
bioRxiv · Mar 2, 2020 · PreprintGenetics