Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure
A. G. O'Neill, A. L. Burrell, M. Zech, O. Elpeleg, T. Harel, S. Edvardson, H. M. Shaked, A. L. Rippert, T. Nomakuchi, K. Izumi, J. M. Kollman
The paper identifies two new IMPDH2 mutations linked to neurodevelopmental disorders and shows they disrupt GTP regulation and enzyme function through structural and functional analysis.
bioRxiv · Mar 15, 2023Biochemistry