MITOMAP References for RNA Mutation T7512C

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Index PMID Date Reference
1 7669057 1995 Nakamura, M., Nakano, S., Goto, Y., Ozawa, M., Nagahama, Y., Fukuyama, H., Akiguchi, I., Kaji, R., Kimura, J. (1995) A novel point mutation in the mitochondrial tRNASer(UCN) gene detected in a family with MERRF/MELAS overlap syndrome Biochemical and Biophysical Research Communications . 214 (1): 86-93 .
2 9778262 1998 Jaksch, M., Klopstock, T., Kurlemann, G., Dorner, M., Hofmann, S., Kleinle, S., Hegemann, S., Weissert, M., Muller-Hocker, J., Pongratz, D., Gerbitz, K. D. (1998) Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene Annals of Neurology . 44 (4): 635-640 .
3 9832034 1998 Jaksch, M., Hofmann, S., Kleinle, S., Liechti-Gallati, S., Pongratz, D. E., Muller-Hocker, J., Jedele, K. B., Meitinger, T., Gerbitz, K. D. (1998) A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy Journal of Medical Genetics . 35 (11): 895-900 .
4 NA 2020 Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .
5 31965079 2020 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
6 15126302 2004 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
7 16361254 2006 Yan, H., Zareen, N., Levinger, L. (2006) Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure Journal of Biological Chemistry . 281 (7): 3926-3935 .
8 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
9 16199753 2005 Mollers, M., Maniura-Weber, K., Kiseljakovic, E., Bust, M., Hayrapetyan, A., Jaksch, M., Helm, M., Wiesner, R. J., von Kleist-Retzow, J. C. (2005) A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations Nucleic Acids Research . 33 (17): 5647-5658 .
10 11215518 2000 Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937
11 15292920 2005 Jacobs, H. T., Hutchin, T. P., Kappi, T., Gillies, G., Minkkinen, K., Walker, J., Thompson, K., Rovio, A. T., Carella, M., Melchionda, S., Zelante, L., Gasparini, P., Pyykko, I., Shah, Z. H., Zeviani, M., Mueller, R. F. (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment European Journal of Human Genetics . 13 (1): 26-33 .
12 20064630 2010 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
13 17894844 2008 Lindberg, C., Moslemi, A. R., Oldfors, A. (2008) MELAS syndrome in a patient with a point mutation in MTTS1 Acta Neurologica Scandinavica . 117 (2): 128-132 .