Chapter 1 26 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 Choquet, K., Yang, S., Moir, R. D., Forget, D., Lariviere, R., Bouchard, A., Poitras, C., Sgarioto, N., Dicaire, M. J., Noohi, F., Kennedy, T. E., Rochford, J., Bernard, G., Teichmann, M., Coulombe, B., Willis, I. M., Kleinman, C. L., & Brais, B. (2017). Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. Mol Brain, 10(1), 13. https://doi.org/10.1186/s13041-017-0294-y Daoud, H., Tetreault, M., Gibson, W., Guerrero, K., Cohen, A., Gburek-Augustat, J., Synofzik, M., Brais, B., Stevens, C. A., Sanchez-Carpintero, R., Goizet, C., Naidu, S., Vanderver, A., & Bernard, G. (2013). Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet, 50(3), 194-197. https://doi.org/10.1136/jmedgenet-2012-101357 DeGasperis, S. M., Bernard, G., Wolf, N. I., Miller, E., & Pohl, D. (2020). 4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis. Neurol Genet, 6(2), e409. https://doi.org/10.1212/NXG.0000000000000409 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 Djordjevic, D., Pinard, M., Gauthier, M. S., Smith-Hicks, C., Hoffman, T. L., Wolf, N. I., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B., & Yoon, G. (2021). De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. Am J Hum Genet, 108(1), 186-193. https://doi.org/10.1016/j.ajhg.2020.12.002 Dooves, S., Bugiani, M., Postma, N. L., Polder, E., Land, N., Horan, S. T., van Deijk, A. L., van de Kreeke, A., Jacobs, G., Vuong, C., Klooster, J., Kamermans, M., Wortel, J., Loos, M., Wisse, L. E., Scheper, G. C., Abbink, T. E., Heine, V. M., & van der Knaap, M. S. (2016). Astrocytes are central in the pathomechanisms of vanishing white matter. J Clin Invest, 126(4), 1512-1524. https://doi.org/10.1172/JCI83908 Dooves, S., Nadadhur, A., Gasparotto, L., & Heine, V. (2019). Co-culture of Human Stem Cell Derived Neurons and Oligodendrocyte Progenitor Cells. Bio-Protocol, 9(17). https://doi.org/10.21769/BioProtoc.3350 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 Fraietta, R., Zylberstejn, D. S., & Esteves, S. C. (2013). Hypogonadotropic hypogonadism revisited. Clinics (Sao Paulo), 68 Suppl 1(Suppl 1), 81-88. https://doi.org/10.6061/clinics/2013(sup01)09 Gauquelin, L., Cayami, F. K., Sztriha, L., Yoon, G., Tran, L. T., Guerrero, K., Hocke, F., van Spaendonk, R. M. L., Fung, E. L., D'Arrigo, S., Vasco, G., Thiffault, I., Niyazov, D. M., Person, R., Lewis, K. S., Wassmer, E., Prescott, T., Fallon, P., McEntagart, M.,…Bernard, G. (2019). Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. Neurol Genet, 5(6), e369. https://doi.org/10.1212/NXG.0000000000000369 Gutierrez, M., Thiffault, I., Guerrero, K., Martos-Moreno, G. A., Tran, L. T., Benko, W., van der Knaap, M. S., van Spaendonk, R. M., Wolf, N. I., & Bernard, G. (2015). Large exonic deletions in POLR3B gene cause
RkJQdWJsaXNoZXIy MTk4NDMw