Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the 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
Abstract
cultures. Our results demonstrate a link between SETD1A and the cAMP-dependent pathway in human neurons.
Topics & Concepts
BiologyHaploinsufficiencyGlutamatergicGeneticsHEK 293 cellsInduced pluripotent stem cellPhenotypeCell biologyGeneGlutamate receptorReceptorEmbryonic stem cellGenetics and Neurodevelopmental DisordersCRISPR and Genetic EngineeringAutism Spectrum Disorder Research