Chapter 1 28 Lerner, M. R., Boyle, J. A., Hardin, J. A., & Steitz, J. A. (1981). Two novel classes of small ribonucleoproteins detected by antibodies associated with lupus erythematosus. Science, 211(4480), 400-402. https://doi.org/10.1126/science.6164096 Lerner, M. R., & Steitz, J. A. (1979). Antibodies to small nuclear RNAs complexed with proteins are produced by patients with systemic lupus erythematosus. Proc Natl Acad Sci U S A, 76(11), 5495-5499. https://doi.org/10.1073/pnas.76.11.5495 Li, L., Yu, Z., Zhao, D., Ren, Y., Hou, H., & Xu, Y. (2021). Structure of human RNA polymerase III elongation complex. Cell Res, 31(7), 791-800. https://doi.org/10.1038/s41422-021-00472-2 Macintosh, J., Michell-Robinson, M., Chen, X., & Bernard, G. (2023). Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development. Front Neurosci, 17, 1167047. https://doi.org/10.3389/fnins.2023.1167047 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 Mattijssen, S., Kerkhofs, K., Stephen, J., Yang, A., Han, C. G., Tadafumi, Y., Iben, J. R., Mishra, S., Sakhawala, R. M., Ranjan, A., Gowda, M., Gahl, W. A., Gu, S., Malicdan, M. C., & Maraia, R. J. (2024). A POLR3B-variant reveals a Pol III transcriptome response dependent on La protein/SSB. bioRxiv. https://doi.org/10.1101/2024.02.05.577363 Merheb, E., Cui, M. H., DuBois, J. C., Branch, C. A., Gulinello, M., Shafit-Zagardo, B., Moir, R. D., & Willis, I. M. (2021). Defective myelination in an RNA polymerase III mutant leukodystrophic mouse. Proc Natl Acad Sci U S A, 118(40). https://doi.org/10.1073/pnas.2024378118 Michell-Robinson, M. A., Watt, K. E. N., Grouza, V., Macintosh, J., Pinard, M., Tuznik, M., Chen, X., Darbelli, L., Wu, C. L., Perrier, S., Chitsaz, D., Uccelli, N. A., Liu, H., Cox, T. C., Muller, C. W., Kennedy, T. E., Coulombe, B., Rudko, D. A., Trainor, P. A., & Bernard, G. (2023). Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy. Brain, 146(12), 5070-5085. https://doi.org/10.1093/brain/awad249 Mirchi, A., Guay, S. P., Tran, L. T., Wolf, N. I., Vanderver, A., Brais, B., Sylvain, M., Pohl, D., Rossignol, E., Saito, M., Moutton, S., Gonzalez-Gutierrez-Solana, L., Thiffault, I., Kruer, M. C., Moron, D. G., Kauffman, M., Goizet, C., Sztriha, L., Glamuzina, E.,…Bernard, G. (2023). Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C. J Med Genet, 60(10), 1026-1034. https://doi.org/10.1136/jmg-2023-109223 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. Elife, 13. https://doi.org/10.7554/eLife.95314 Mrazek, J., Kreutmayer, S. B., Grasser, F. A., Polacek, N., & Huttenhofer, A. (2007). Subtractive hybridization identifies novel differentially expressed ncRNA species in EBV-infected human B cells. Nucleic Acids Res, 35(10), e73. https://doi.org/10.1093/nar/gkm244 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 Nandy, C., Mrazek, J., Stoiber, H., Grasser, F. A., Huttenhofer, A., & Polacek, N. (2009). Epstein-barr virusinduced expression of a novel human vault RNA. J Mol Biol, 388(4), 776-784. https://doi.org/10.1016/j.jmb.2009.03.031
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