MITOMAP References for RNA Mutation T7512C

• 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 .


• 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 .


• 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 .


• Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .


• 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 .


• Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .


• 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 .


• Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937


• 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 .


• 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 .