Induced pluripotent stem cells derived from individuals deficient in CDKL5 protein were used to generate neural cells. Proteomic and phosphoproteomic approaches revealed disruption of several pathways, including microtubule-based processes and cytoskeleton organization.
[Molecular Psychiatry]
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Negraes, P. D., Trujillo, C. A., Yu, N.-K., Wu, W., Yao, H., Liang, N., Lautz, J. D., Kwok, E., McClatchy, D., Diedrich, J., de Bartolome, S. M., Truong, J., Szeto, R., Tran, T., Herai, R. H., Smith, S. E. P., Haddad, G. G., Yates, J. R., & Muotri, A. R. (2021). Altered network and rescue of human neurons derived from individuals with early-onset genetic epilepsy. Molecular Psychiatry, 1–22. https://doi.org/10.1038/s41380-021-01104-2 Cite
