Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through cAMP/PKA pathway
Shan Wang, Jon-Ruben van Rhijn, Ibrahim A. Akkouh, Naoki Kogo, Nadine Maas, Anna Bleeck, Irene Santisteban Ortiz, Elly Lewerissa, Ka Man Wu, Chantal Schoenmaker, Srdjan Djurovic, Hans van Bokhoven, Tjitske Kleefstra, Nael Nadif Kasri, Dirk Schubert
This study shows that SETD1A loss-of-function mutations increase dendritic complexity and neuronal bursting in human neurons via a hyperactive cAMP/PKA pathway, which can be rescued by pharmacological intervention.
Cell Reports · May 1, 2022Peer-reviewedNeuroscience