Article
An IMPDH2 variant associated with neurodevelopmental disorder disrupts purine biosynthesis and somite organization.
Proceedings of the National Academy of Sciences of the United States of America - 9 Dec 2025
O'Neill Audrey G, McCartney Morgan E, Wheeler Gavin M, Patel Jeet H, Sanchez-Ramirez Gardenia, Kollman Justin M, Wills Andrea E
Abstract excerpt
IMP dehydrogenase (IMPDH) controls a key regulatory node in purine biosynthesis. Gain-of-function mutations in human IMPDH2 are associated with neurodevelopmental disorders and neuromuscular symptoms including dystonia, but the developmental mechanisms underlying these defects are unknown. We previously showed that these mutants are insensitive to GTP inhibition and hypothesized that their hyperactivity would...
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