BiochemistrybioRxivPreprint
An IMPDH2 variant associated with neurodevelopmental disorder disrupts purine biosynthesis and somitogenesis
Audrey G. O’Neill, Morgan E. McCartney, Gavin M. Wheeler…·Andrea Elizabeth Wills
This paper shows that an IMPDH2 variant linked to neurodevelopmental disorders disrupts purine biosynthesis and somitogenesis in Xenopus tropicalis by affecting filament assembly and GTP sensitivity.
DOI 10.1101/2025.05.09.652712