Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.
Audrey G O'NeillJustin M KollmanMichael ZechOrly ElpelegTamar HarelSimon EdvardsonHagar Mor ShakedAlyssa L RippertTomoki NomakuchiKosuke IzumiJustin M KollmanPublished in: bioRxiv : the preprint server for biology (2023)
mutation and lays a foundation for future therapeutic development.