Article

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

2023-03-15

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 identification of two addit...

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Literature Corpus work: 2fbc4fa8-0f84-50d4-8d62-c39a58d1efc8
DOI: 10.1101/2023.03.15.532669

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