Missense mutation in the activation segment of the kinase CK2 models Okur Chung neurodevelopmental disorder and alters the hippocampal glutamatergic synapse
Jose Manuel Cruz-Gamero, Demetra Ballardin, Barbara Lecis, Chun-Lei Zhang, Laetitia Cobret, Alexander Gast, Séverine Morisset‐Lopez, Rebecca A. Piskorowski, Dominique Langui, Joachim Jose, Guillaume Chevreux, Heike Rebholz
This paper creates a knockin mouse model with a K198R mutation in CK2 kinase, showing ASD-like behaviors and synaptic deficits, validating it as a model for Okur-Chung Neurodevelopmental Syndrome.
Molecular Psychiatry · Oct 4, 2024Peer-reviewedNeuroscience