Article

An IMPDH2 variant associated with neurodevelopmental disorder disrupts purine biosynthesis and somitogenesis

2025-05-11

Abstract excerpt

<h4>ABSTRACT</h4> 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 hyper...

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Literature Corpus work: 7b3fc4b7-3e10-5bca-8013-37f22b9fbc1c
DOI: 10.1101/2025.05.09.652712

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