TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons
Brittany A. Davis, Huei-Ying Chen, Zengyou Ye, Isaac Ostlund, Madhavi Tippani, Debamitra Das, Srinidhi Rao Sripathy, Yanhong Wang, Jacqueline M. Martín, Gina Shim, Neel M. Panchwagh, Rebecca L. Moses, Federica Farinelli, Joseph F. Bohlen, Meijie Li, , Brady J. Maher
This study shows TCF4 mutations impair synaptic function in patient-derived cortical neurons by disrupting RIMBP2 expression, leading to deficits in synaptic transmission and network excitability.
Biological Psychiatry · Apr 1, 2024Peer-reviewedNeuroscience