Topic: cortical neurodevelopmental abnormalities

Neurodevelopmental disorders (NDDs) have a highly heterogeneous etiology but share dysfunctional molecular pathways whose characterization is necessary for therapy development. Recently, NDDs have been linked to defects in UFMylation, a post-translational protein modification that involves the covalent and reversible attachment of UFM1 to targets via the orchestrated action of specific enzymes. Interestingly, mutations in the human Ufm1 gene or in genes encoding UFM1-conjugating enzymes have been associated with NDDs. These mutations all cause reduced UFMylation in the brain, providing strikin