MITOMAP References for RNA Mutation C5541T

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Index PMID Date Reference
1 23696415 2013 Blakely, E. L., Yarham, J. W., Alston, C. L., Craig, K., Poulton, J., Brierley, C., Park, S.-M., Dean, A., Xuereb, J. H., Anderson, K. N., Compston, A., Allen, C., Sharif, S., Enevoldson, P., Wilson, M., Hammans, S. R., Turnbull, D. M., McFarland, R., Taylor, R. W. (2013) Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease Human Mutation . 34 (9): 1260-1268 .
2 33208382 2020 Ji, K., Lin, Y., Xu, X., Wang, W., Wang, D., Zhang, C., Li, W., Zhao, Y., Yan, C. (2020) MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNA(Trp) and remarkable mitochondrial dysfunction Journal of Medical Genetics . ePub ahead of print (): jmedgenet-2020-107323 .
3 26297375 2015 Hatakeyama, H., Katayama, A., Komaki, H., Nishino, I., Goto, Y. (2015) Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp) Acta Neuropathologica Communications . 3 (): 52 .
4 29467576 2018 Volobueva, A. S., Melnichenko, A. A., Grechko, A. V., Orekhov, A. N. (2018) Mitochondrial genome variability: the effect on cellular functional activity [Review] Therapeutics and Clinical Risk Management . 14 (): 237-245