Chapter 6 206 DECLARATION OF GENERATIVE AI AND AI-ASSISTED TECHNOLOGIES IN THE WRITING PROCESS. During the preparation of this work the author(s) used ChatGPT in order to improve readability and language. After using this tool/service, the author(s) reviewed and edited the content as needed and take(s) full responsibility for the content of the published article. REFERENCES Adang, L. A., Sherbini, O., Ball, L., Bloom, M., Darbari, A., Amartino, H., DiVito, D., Eichler, F., Escolar, M., Evans, S. H., Fatemi, A., Fraser, J., Hollowell, L., Jaffe, N., Joseph, C., Karpinski, M., Keller, S., Maddock, R., Mancilla, E., . . . Global Leukodystrophy Initiative, C. (2017). Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab, 122(1-2), 18-32. https://doi.org/10.1016/j.ymgme.2017.08.006 Bernard, G., Chouery, E., Putorti, M. L., Tetreault, M., Takanohashi, A., Carosso, G., Clement, I., BoespflugTanguy, O., Rodriguez, D., Delague, V., Abou Ghoch, J., Jalkh, N., Dorboz, I., Fribourg, S., Teichmann, M., Megarbane, A., Schiffmann, R., Vanderver, A., & Brais, B. (2011). Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet, 89(3), 415-423. https://doi.org/10.1016/j.ajhg.2011.07.014 Choquet, K., Forget, D., Meloche, E., Dicaire, M. J., Bernard, G., Vanderver, A., Schiffmann, R., Fabian, M. R., Teichmann, M., Coulombe, B., Brais, B., & Kleinman, C. L. (2019). Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200. J Biol Chem, 294(18), 7445-7459. https://doi.org/10.1074/jbc.RA118.006271 Choquet, K., Pinard, M., Yang, S., Moir, R. D., Poitras, C., Dicaire, M. J., Sgarioto, N., Lariviere, R., Kleinman, C. L., Willis, I. M., Gauthier, M. S., Coulombe, B., & Brais, B. (2019). The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis. Mol Brain, 12(1), 59. https://doi.org/10.1186/s13041-019-0479-7 Dittmar, K. A., Goodenbour, J. M., & Pan, T. (2006). Tissue-specific differences in human transfer RNA expression. PLoS Genet, 2(12), e221. https://doi.org/10.1371/journal.pgen.0020221 Dooves, S., Kok, L. M. L., Holmes, D. B., Breeuwsma, N., Breur, M., Bugiani, M., Wolf, N. I., & Heine, V. M. (2023). Cortical interneuron development is affected in 4H leukodystrophy. Brain, 146(7), 2846-2860. https://doi.org/10.1093/brain/awad017 Dorboz, I., Dumay-Odelot, H., Boussaid, K., Bouyacoub, Y., Barreau, P., Samaan, S., Jmel, H., Eymard-Pierre, E., Cances, C., Bar, C., Poulat, A. L., Rousselle, C., Renaldo, F., Elmaleh-Berges, M., Teichmann, M., & Boespflug-Tanguy, O. (2018). Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation. Neurol Genet, 4(6), e289. https://doi.org/10.1212/NXG.0000000000000289 Harting, I., Al-Saady, M., Krageloh-Mann, I., Bley, A., Hempel, M., Bierhals, T., Karch, S., Moog, U., Bernard, G., Huntsman, R., van Spaendonk, R. M. L., Vreeburg, M., Rodriguez-Palmero, A., Pujol, A., van der Knaap, M. S., Pouwels, P. J. W., & Wolf, N. I. (2020). POLR3A variants with striatal involvement and extrapyramidal movement disorder. Neurogenetics, 21(2), 121-133. https://doi.org/10.1007/s10048019-00602-4 Holmes, D. B., & Heine, V. M. (2017). Simplified 3D protocol capable of generating early cortical neuroepithelium. Biol Open, 6(3), 402-406. https://doi.org/10.1242/bio.021725
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