MITOMAP References for Variant G12315A at 12315

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9361028 Shoubridge, E.A., Johns, T., Karpati, G. (1997) Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy Human Molecular Genetics . 6 (13): 2239-2242 .
8923013 Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., Shoubridge, E.A. (1996) A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy Human Molecular Genetics . 5 (11): 1835-1840 .
10332036 Taivassalo, T., Fu, K., Johns, T., Arnold, D., Karpati, G., Shoubridge, E.A. (1999) Gene shifting: a novel therapy for mitochondrial myopathy Human Molecular Genetics . 8 (6): 1047-1052 .
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 .
12398839 Karadimas, C. L., Salviati, L., Sacconi, S., Chronopoulou, P., Shanske, S., Bonilla, E., De Vivo, D. C., DiMauro, S. (2002) Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA Neuromuscular Disorders . 12 (9): 865-868 .
18977334 Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 .
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 .
28951770 Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Khasanova, Z. B., Postnov, A. Y., Yarygina, E. I., Orekhov, A. N., Sobenin, I. A. (2017) Role of mitochondrial genome mutations in pathogenesis of carotid atherosclerosis Oxidative Medicine and Cellular Longevity . 2017 (): 6934394 .
23631826 Wang, M., Zhou, X. L., Liu, R. J., Fang, Z. P., Zhou, M., Eriani, G., Wang, E. D. (2013) Multilevel functional and structural defects induced by two pathogenic mitochondrial tRNA mutations Biochemical Journal . 453 (3): 455-465 .
29670672 Sazonova, M. A., Ryzhkova, A. I., Sinyov, V. V., Galitsyna, E. V., Melnichenko, A. A., Demakova, N. A., Sobenin, I. A., Shkurat, T. P., Orekhov, A. N. (2018) Mitochondrial genome mutations associated with myocardial infarction Disease Markers . 2018 (): 9749457 .
23395464 Sobenin, I. A., Sazonova, M. A., Postnov, A. Y., Bobryshev, Y. V., Orekhov, A. N. (2013) Changes of mitochondria in atherosclerosis: possible determinant in the pathogenesis of the disease Atherosclerosis . 227 (2): 283-288 .
23874496 Sobenin, I. A., Sazonova, M. A., Postnov, A. Y., Salonen, J. T., Bobryshev, Y. V., Orekhov, A. N. (2013) Association of mitochondrial genetic variation with carotid atherosclerosis PLoS One . 8 (7): e68070 .
25834827 Sazonova, M. A., Sinyov, V. V., Barinova, V. A., Ryzhkova, A. I., Zhelankin, A. V., Postnov, A. Y., Sobenin, I. A., Bobryshev, Y. V., Orekhov, A. N. (2015) Mosaicism of mitochondrial genetic variation in atherosclerotic lesions of the human aorta BioMed Research International . 2015 (): 825468 .
31540444 Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Sazonova, M. D., Khasanova, Z. B., Shkurat, T. P., Karagodin, V. P., Orekhov, A. N., Sobenin, I. A. (2019) Creation of cybrid Cultures containing mtDNA mutations m.12315G>A and m.1555G>A, associated with atherosclerosis Biomolecules . 9 (9): 499 .