MITOMAP References for Variant G8313A at 8313

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PMID Reference
9380435 Verma, A., Piccoli, D. A., Bonilla, E., Berry, G. T., DiMauro, S., Moraes, C. T. (1997) A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy Pediatric Research . 42 (4): 448-454 .
29253894 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
12737626 Bacman, S. R., Atencio, D. P., Moraes, C. T. (2003) Decreased mitochondrial tRNALys steady-state levels and aminoacylation are associated with the pathogenic G8313A mitochondrial DNA mutation Biochemical Journal . 374 (Pt 1): 131-136 .
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 .
19618438 O'Rourke, K., Buddles, M. R., Farrell, M., Howley, R., Sukuraman, S., Connolly, S., Turnbull, D. M., Hutchinson, M., Taylor, R. W. (2009) Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation Muscle and Nerve . 40 (4): 648-651 .