Liza Kok

Introduction 25 1 REFERENCES Abed Rabbo, M., Khodour, Y., Kaguni, L. S., & Stiban, J. (2021). Sphingolipid lysosomal storage diseases: from bench to bedside. Lipids Health Dis, 20(1), 44. https://doi.org/10.1186/s12944-021-01466-0 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 Al-Ani, A. H., Antoun, J. S., Thomson, W. M., Merriman, T. R., & Farella, M. (2017). Hypodontia: An Update on Its Etiology, Classification, and Clinical Management. Biomed Res Int, 2017, 9378325. https://doi.org/10.1155/2017/9378325 Arimbasseri, A. G., Blewett, N. H., Iben, J. R., Lamichhane, T. N., Cherkasova, V., Hafner, M., & Maraia, R. J. (2015). RNA Polymerase III Output Is Functionally Linked to tRNA Dimethyl-G26 Modification. PLoS Genet, 11(12), e1005671. https://doi.org/10.1371/journal.pgen.1005671 Azmanov, D. N., Siira, S. J., Chamova, T., Kaprelyan, A., Guergueltcheva, V., Shearwood, A. J., Liu, G., Morar, B., Rackham, O., Bynevelt, M., Grudkova, M., Kamenov, Z., Svechtarov, V., Tournev, I., Kalaydjieva, L., & Filipovska, A. (2016). Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement. Hum Mol Genet, 25(19), 4302-4314. https://doi.org/10.1093/hmg/ddw263 Bartkiewicz, M., Gold, H., & Altman, S. (1989). Identification and characterization of an RNA molecule that copurifies with RNase P activity from HeLa cells. Genes Dev, 3(4), 488-499. https://doi.org/10.1101/gad.3.4.488 Berger, J., Forss-Petter, S., & Eichler, F. S. (2014). Pathophysiology of X-linked adrenoleukodystrophy. Biochimie, 98(100), 135-142. https://doi.org/10.1016/j.biochi.2013.11.023 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 Billington, E., Bernard, G., Gibson, W., & Corenblum, B. (2015). Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature. Case Rep Endocrinol, 2015, 314594. https://doi.org/10.1155/2015/314594 Bishop, J. M., Levinson, W. E., Sullivan, D., Fanshier, L., Quintrell, N., & Jackson, J. (1970). The low molecular weight RNAs of Rous sarcoma virus. II. The 7 S RNA. Virology, 42(4), 927-937. https://doi.org/10.1016/0042-6822(70)90341-7 Brenner, M., Johnson, A. B., Boespflug-Tanguy, O., Rodriguez, D., Goldman, J. E., & Messing, A. (2001). Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet, 27(1), 117-120. https://doi.org/10.1038/83679 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

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