MITOMAP References for RNA Mutation G8363A

• Santorelli, F. M., Mak, S. C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., Madrid, R. E., DiMauro, S. (1996) Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A) American Journal of Human Genetics . 58 (5): 933-939 .


• Ozawa, M., Nishino, I., Horai, S., Nonaka, I., Goto, Y.I. (1997) Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families Muscle and Nerve . 20 (3): 271-278 .


• Arenas, J., Campos, Y., Bornstein, B., Ribacoba, R., Martin, M. A., Rubio, J. C., Santorelli, F. M., Zeviani, M., DiMauro, S., Garesse, R. (1999) A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers Neurology . 52 (2): 377-382 .


• Graf, W. D., Marin-Garcia, J., Gao, H. G., Pizzo, S., Naviaux, R. K., Markusic, D., Barshop, B. A., Courchesne, E., Haas, R. H. (2000) Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation Journal of Child Neurology . 15 (6): 357-361 .


• Shtilbans, A., Shanske, S., Goodman, S., Sue, C. M., Bruno, C., Johnson, T. L., Lava, N. S., Waheed, N., DiMauro, S. (2000) G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome Journal of Child Neurology . 15 (11): 759-761 .


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


• Sissler, M., Helm, M., Frugier, M., Giege, R., Florentz, C. (2004) Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants RNA . 10 (5): 841-853 .


• Pronicki, M., Sykut-Cegielska, J., Matyja, E., Musialowicz, J., Karczmarewicz, E., Tonska, K., Piechota, J., Piekutowska-Abramczuk, D., Kowalski, P., Bartnik, E. (2007) G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child Folia Neuropathologica . 45 (4): 187-191 .


• Fornuskova, D., Brantova, O., Tesarova, M., Stiburek, L., Honzik, T., Wenchich, L., Tietzeova, E., Hansikova, H., Zeman, J. (2008) The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues Biochimica et Biophysica Acta . 1782 (5): 317-325 .


• Casali, C., Fabrizi, G. M., Santorelli, F. M., Colazza, G., Villanova, M., Dotti, M. T., Cavallaro, T., Cardaioli, E., Battisti, C., Manneschi, L., DiGennaro, G. C., Fortini, D., Spadaro, M., Morocutti, C., Federico, A. (1999) Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family Neurology . 52 (5): 1103-1104 .


• Virgilio, R., Ronchi, D., Bordoni, A., Fassone, E., Bonato, S., Donadoni, C., Torgano, G., Moggio, M., Corti, S., Bresolin, N., Comi, G. P. (2009) Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study Journal of the Neurological Sciences . 281 (40545): 85-92 .


• Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 .


• Bohm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J., Mierzewska, H., Hansikova, H., Vesela, K., Tesarova, M., Houstkova, H., Houstek, J., Zeman, J. (2006) Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency Pediatric Research . 59 (1): 21-26 .


• 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 .


• Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 .