Article
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
The Journal of biological chemistry - 1 Aug 2023
O'Neill Audrey G, Burrell Anika L, Zech Michael, Elpeleg Orly, Harel Tamar, Edvardson Simon, Mor-Shaked Hagar, Rippert Alyssa L, Nomakuchi Tomoki, Izumi Kosuke, Kollman Justin M
Abstract excerpt
Inosine 5' monophosphate dehydrogenase (IMPDH) is a critical regulatory enzyme in purine nucleotide biosynthesis that is inhibited by the downstream product GTP. Multiple point mutations in the human isoform IMPDH2 have recently been associated with dystonia and other neurodevelopmental disorders, but the effect of the mutations on enzyme function has not been described. Here, we report the identification of two...
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