Liza Kok

POLR3 gene and protein expression dynamics in 4H 207 6 La Piana, R., Cayami, F. K., Tran, L. T., Guerrero, K., van Spaendonk, R., Õunap, K., Pajusalu, S., Haack, T., Wassmer, E., Timmann, D., Mierzewska, H., Poll-Thé, B. T., Patel, C., Cox, H., Atik, T., Onay, H., Ozkınay, F., Vanderver, A., van der Knaap, M. S., . . . Bernard, G. (2016). Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology, 86(17), 1622-1626. Macintosh, J., Perrier, S., Pinard, M., Tran, L. T., Guerrero, K., Prasad, C., Prasad, A. N., Pastinen, T., Thiffault, I., Coulombe, B., & Bernard, G. (2023). Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report. Front Neurol, 14, 1254140. https://doi.org/10.3389/fneur.2023.1254140 Moir, R. D., Merheb, E., Chitu, V., Stanley, E. R., & Willis, I. M. (2024). Molecular basis of neurodegeneration in a mouse model of Polr3-related disease. bioRxiv. https://doi.org/10.1101/2023.12.12.571310 Nadadhur, A. G., Emperador Melero, J., Meijer, M., Schut, D., Jacobs, G., Li, K. W., Hjorth, J. J. J., Meredith, R. M., Toonen, R. F., Van Kesteren, R. E., Smit, A. B., Verhage, M., & Heine, V. M. (2017). Multi-level characterization of balanced inhibitory-excitatory cortical neuron network derived from human pluripotent stem cells. PLoS One, 12(6), e0178533. https://doi.org/10.1371/journal.pone.0178533 Nicholson, M. W., Ting, C. Y., Chan, D. Z. H., Cheng, Y. C., Lee, Y. C., Hsu, C. C., Huang, C. Y., & Hsieh, P. C. H. (2022). Utility of iPSC-Derived Cells for Disease Modeling, Drug Development, and Cell Therapy. Cells, 11(11). https://doi.org/10.3390/cells11111853 Nieuwenhuis, R., te Grotenhuis, M., & Pelzer, B. (2012). influence.ME: tools for detecting influential data in mixed effects models. The R Journal, 4(2), 38-47. Perrier, S., Gauquelin, L., Fallet-Bianco, C., Dishop, M. K., Michell-Robinson, M. A., Tran, L. T., Guerrero, K., Darbelli, L., Srour, M., Petrecca, K., Renaud, D. L., Saito, M., Cohen, S., Leiz, S., Alhaddad, B., Haack, T. B., Tejera-Martin, I., Monton, F. I., Rodriguez-Espinosa, N., . . . Bernard, G. (2020). Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet, 6(3), e425. https://doi.org/10.1212/NXG.0000000000000425 Richards, M. R., Plummer, L., Chan, Y. M., Lippincott, M. F., Quinton, R., Kumanov, P., & Seminara, S. B. (2017). Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. J Med Genet, 54(1), 19-25. https://doi.org/10.1136/jmedgenet2016-104064 Shi, Y., Inoue, H., Wu, J. C., & Yamanaka, S. (2017). Induced pluripotent stem cell technology: a decade of progress. Nat Rev Drug Discov, 16(2), 115-130. https://doi.org/10.1038/nrd.2016.245 Tetreault, M., Choquet, K., Orcesi, S., Tonduti, D., Balottin, U., Teichmann, M., Fribourg, S., Schiffmann, R., Brais, B., Vanderver, A., & Bernard, G. (2011). Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet, 89(5), 652655. https://doi.org/10.1016/j.ajhg.2011.10.006 Thiffault, I., Wolf, N. I., Forget, D., Guerrero, K., Tran, L. T., Choquet, K., Lavallee-Adam, M., Poitras, C., Brais, B., Yoon, G., Sztriha, L., Webster, R. I., Timmann, D., van de Warrenburg, B. P., Seeger, J., Zimmermann, A., Mate, A., Goizet, C., Fung, E., . . . Bernard, G. (2015). Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun, 6, 7623. https://doi.org/10.1038/ncomms8623 Tian, K., Wang, R., Huang, J., Wang, H., & Ji, X. (2023). Subcellular localization shapes the fate of RNA polymerase III. Cell Rep, 42(8), 112941. https://doi.org/10.1016/j.celrep.2023.112941

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