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2. TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons

Author

Davis, Brittany A., primary, Chen, Huei-Ying, additional, Ye, Zengyou, additional, Ostlund, Isaac, additional, Tippani, Madhavi, additional, Das, Debamitra, additional, Sripathy, Srinidhi Rao, additional, Wang, Yanhong, additional, Martin, Jacqueline M., additional, Shim, Gina, additional, Panchwagh, Neel M., additional, Moses, Rebecca L., additional, Farinelli, Federica, additional, Bohlen, Joseph F., additional, Li, Meijie, additional, Luikart, Bryan W., additional, Jaffe, Andrew E., additional, and Maher, Brady J., additional

Published
2023
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3. Electrophysiological measures from human iPSC-derived neurons are associated with schizophrenia clinical status and predict individual cognitive performance

Author

Page, Stephanie Cerceo, primary, Sripathy, Srinidhi Rao, additional, Farinelli, Federica, additional, Ye, Zengyou, additional, Wang, Yanhong, additional, Hiler, Daniel J., additional, Pattie, Elizabeth A., additional, Nguyen, Claudia V., additional, Tippani, Madhavi, additional, Moses, Rebecca L., additional, Chen, Huei-Ying, additional, Tran, Matthew Nguyen, additional, Eagles, Nicholas J., additional, Stolz, Joshua M., additional, Catallini, Joseph L., additional, Soudry, Olivia R., additional, Dickinson, Dwight, additional, Berman, Karen F., additional, Apud, Jose A., additional, Weinberger, Daniel R., additional, Martinowich, Keri, additional, Jaffe, Andrew E., additional, Straub, Richard E., additional, and Maher, Brady J., additional

Published
2022
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4. Electrophysiological measures from human iPSC-derived neurons are associated with schizophrenia clinical status and predict individual cognitive performance

Author

Page, Stephanie Cerceo, primary, Sripathy, Srinidhi Rao, additional, Farinelli, Federica, additional, Ye, Zengyou, additional, Wang, Yanhong, additional, Hiler, Daniel J, additional, Pattie, Elizabeth A, additional, Nguyen, Claudia V, additional, Tippani, Madhavi, additional, Moses, Rebecca L., additional, Chen, Huei-Ying, additional, Tran, Matthew Nguyen, additional, Eagles, Nicholas J, additional, Stolz, Joshua M, additional, Catallini, Joseph L, additional, Soudry, Olivia R, additional, Dickinson, Dwight, additional, Berman, Karen F, additional, Apud, Jose A, additional, Weinberger, Daniel R, additional, Martinowich, Keri, additional, Jaffe, Andrew E, additional, Straub, Richard E, additional, and Maher, Brady J, additional

Published
2021
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5. TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons.

Author

Davis BA, Chen HY, Ye Z, Ostlund I, Tippani M, Das D, Sripathy SR, Wang Y, Martin JM, Shim G, Panchwagh NM, Moses RL, Farinelli F, Bohlen JF, Li M, Luikart BW, Jaffe AE, and Maher BJ

Abstract

Genetic variation in the transcription factor 4 ( TCF4) gene is associated with risk for a variety of developmental and psychiatric conditions, which includes a syndromic form of ASD called Pitt Hopkins Syndrome (PTHS). TCF4 encodes an activity-dependent transcription factor that is highly expressed during cortical development and in animal models is shown to regulate various aspects of neuronal development and function. However, our understanding of how disease-causing mutations in TCF4 confer pathophysiology in a human context is lacking. Here we show that cortical neurons derived from patients with TCF4 mutations have deficits in spontaneous synaptic transmission, network excitability and homeostatic plasticity. Transcriptomic analysis indicates these phenotypes result from altered expression of genes involved in presynaptic neurotransmission and identifies the presynaptic binding protein, RIMBP2 as the most differentially expressed gene in PTHS neurons. Remarkably, TCF4-dependent deficits in spontaneous synaptic transmission and network excitability were rescued by increasing RIMBP2 expression in presynaptic neurons. Together, these results identify TCF4 as a critical transcriptional regulator of human synaptic development and plasticity and specifically identifies dysregulation of presynaptic function as an early pathophysiology in PTHS.

Published
2023
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