GeneticsTranslational PsychiatryPeer-reviewed
Presynaptic dysfunction in CASK-related neurodevelopmental disorders
Martin Becker, Francesca Mastropasqua, Jan Philipp Reising…·Kristiina Tammimies
This study investigates the effects of CASK mutations in human neurons derived from iPSCs, showing reduced CASK protein and altered presynaptic development, with implications for excitatory-inhibitory balance.
41 citations