Presynaptic dysfunction in CASK-related neurodevelopmental disorders
Martin Becker, Francesca Mastropasqua, Jan Philipp Reising, Simon J. Maier, Mai‐Lan Ho, Ielyzaveta Rabkina, Danyang Li, Janina Neufeld, Lea Ballenberger, Lynnea Myers, Viveka Moritz, Malin Kele, Josephine Wincent, Charlotte Willfors, Rouslan Sitnikov, , 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.
Translational Psychiatry · Sep 14, 2020Peer-reviewedGenetics