| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 10531063 | 1999 | Michikawa, Y., Mazzucchelli, F., Bresolin, N., Scarlato, G., Attardi, G. (1999) Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication Science . 286 (5440): 774-779 . |
| 2 | 11058135 | 2000 | Murdock, D. G., Christacos, N. C., Wallace, D. C. (2000) The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method Nucleic Acids Research . 28 (21): 4350-4355 . |
| 3 | 12220698 | 2002 | Del Bo, R., Bordoni, A., Boneschi, F.M., Crimi, M., Sciacco, M., Bresolin, N., Scarlato, G., Comi, G.P. (2002) Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients Journal of the Neurological Sciences . 202 (40545): 85-91 . |
| 4 | 11198288 | 2001 | Del Bo, R., Comi, G. P., Perini, M. P., Strazzer, S., Bresolin, N., Scarlato, G. (2001) Down's syndrome fibroblasts anticipate the accumulation of specific ageing-related mtDNA mutations Annals of Neurology . 49 (1): 137-138 . |
| 5 | NA | 2001 | Del Bo, R., Sciacco, M., Crimi, M., Napoli, L., Bresolin, N., Scarlato, G., Comi, G. P. (2001) Somatic ageing-related mutations in the human mtDNA control region from normal muscles: a single-fiber study Mitochondrion . 1 (Suppl 1): S44 . |
| 6 | 16120306 | 2002 | Attardi, G. (2002) Role of mitochondrial DNA in human aging Mitochondrion . 2 (40545): 27-37 . |
| 7 | 11274426 | 2001 | Wang, Y., Michikawa, Y., Mallidis, C., Bai, Y., Woodhouse, L., Yarasheski, K. E., Miller, C. A., Askanas, V., Engel, W. K., Bhasin, S., Attardi, G. (2001) Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication Proceedings of the National Academy of Sciences of the United States of America . 98 (7): 4022-4027 . |
| 8 | 12606714 | 2003 | Coskun, P. E., Ruiz-Pesini, E. E., Wallace, D. C. (2003) Control region mtDNA variants: longevity, climatic adaptation and a forensic conundrum Proceedings of the National Academy of Sciences of the United States of America . 100 (5): 2174-2176 . |
| 9 | 15247418 | 2004 | Coskun, P. E., Beal, M. F., Wallace, D. C. (2004) Somatic mitochondrial DNA control region mutations are prevalent in Alzheimer Disease brains Proceedings of the National Academy of Sciences of the United States of America . 101 (29): 10726-10731 . |
| 10 | 12804188 | 2000 | Barritt, J. A., Cohen, J., Brenner, C. A. (2000) Mitochondrial DNA point mutation in human oocytes is associated with maternal age Reproductive Biomedicine Online . 1 (3): 96-100 . |
| 11 | 19052564 | 2009 | Birket, M. J., Passos, J. F., von Zglinicki, T., Birch-Machin, M. A. (2009) The relationship between the aging- and photo-dependent T414G mitochondrial DNA mutation with cellular senescence and reactive oxygen species production in cultured skin fibroblasts Journal of Investigative Dermatology . 129 (6): 1361-1366 . |
| 12 | 24244193 | 2013 | Samuels, D. C., Li, C., Li, B., Song, Z., Torstenson, E., Boyd Clay, H., Rokas, A., Thornton-Wells, T. A., Moore, J. H., Hughes, T. M., Hoffman, R. D., Haines, J. L., Murdock, D. G., Mortlock, D. P., Williams, S. M. (2013) Recurrent tissue-specific mtDNA mutations are common in humans PLoS Genetics . 9 (11): e1003929 . |
| 13 | 15328912 | 1999 | Michikawa, Y., Laderman, K., Richter, K., Attardi, G. (1999) Role of nuclear background and in vivo environment in variable segregation behavior of the aging-dependent T414G mutation at critical control site for human fibroblast mtDNA replication Somatic Cell and Molecular Genetics . 25 (40669): 333-342 . |
| 14 | 12927765 | 2003 | Del Bo, R., Crimi, M., Sciacco, M., Malferrari, G., Bordoni, A., Napoli, L., Prelle, A., Biunno, I., Moggio, M., Bresolin, N., Scarlato, G., Pietro Comi, G. (2003) High mutational burden in the mtDNA control region from aged muscles: a single-fiber study Neurobiology of Aging . 24 (6): 829-838 . |
| 15 | 14557557 | 2003 | Del Bo, R., Bordoni, A., Sciacco, M., Di Fonzo, A., Galbiati, S., Crimi, M., Bresolin, N., Comi, G. P. (2003) Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain Neurology . 61 (7): 903-908 . |
| 16 | 19076427 | 2008 | Reeve, A. K., Krishnan, K. J., Turnbull, D. (2008) Mitochondrial DNA mutations in disease, aging, and neurodegeneration Annals of the New York Academy of Sciences . 1147 (-): 21-29 . |
| 17 | 18796524 | 2008 | Seibel, P., Di Nunno, C., Kukat, C., Schafer, I., Del Bo, R., Bordoni, A., Comi, G. P., Schon, A., Capuano, F., Latorre, D., Villani, G. (2008) Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids Nucleic Acids Research . 36 (18): 5872-5881 . |
| 18 | 33453104 | 2021 | Gary, A. S., Dorr, M. M., Rochette, P. J. (2021) The T414G mitochondrial DNA mutation: a biomarker of ageing in human eye Mutagenesis . 36 (2): 187-192 . |