MITOMAP References for Variant G8363A at 8363

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8651277 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 .
9052804 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 .
9932960 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 .
21263444 Rossignol, D. A., Frye, R. E. (2012) Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis Molecular Psychiatry . 17 (3): 290-314 .
25192510 Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 .
NA 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 .
31965079 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 .
10868777 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 .
11108511 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 .
15477393 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
15100439 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 .
18176892 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 .
18319067 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 .
15554876 Bornstein, B., Mas, J. A., Patrono, C., Fernandez-Moreno, M. A., Gonzalez-Vioque, E., Campos, Y., Carrozzo, R., Martin, M. A., del Hoyo, P., Santorelli, F. M., Arenas, J., Garesse, R. (2005) Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene Biochemical Journal . 387 (Pt 3): 773-778 .
10102446 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 .
19278689 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 .
19370763 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 .
16326995 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 .
20064630 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 .
19718780 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 .
29983856 Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Melnichenko, A. A., Postnov, A. Y., Orekhov, A. N., Sobenin, I. A. (2018) Cybrid models of pathological cell processes in different diseases Oxidative Medicine and Cellular Longevity . 2018 (): 4647214 .
25909222 Cruz-Bermudez, A., Vallejo, C. G., Vicente-Blanco, R. J., Gallardo, M. E., Fernandez-Moreno, M. A., Quintanilla, M., Garesse, R. (2015) Enhanced tumorigenicity by mitochondrial DNA mild mutations Oncotarget . 6 (15): 13628-13643 .
22538251 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .