GeneticsbioRxivPreprint
Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity.
Harikiran Nistala, John Dronzek, Claudia G. Gonzaga-Jauregui…·Aris N. Economides
The paper investigates PRUNE1 variants causing NMIHBA, showing they disrupt exopolyphosphatase activity and lead to neurodevelopmental defects in mice.