Index | PMID | Date | Reference |
---|---|---|---|
1 | 11119722 | 2000 | Carrozzo, R., Murray, J., Santorelli, F. M., Capaldi, R. A. (2000) The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli FEBS Letters . 486 (3): 297-299 . |
2 | 11382202 | 2000 | Carrozzo, R., Murray, J., Capuano, O., Tessa, A., Chichierchia, G., Neglia, M. R., Capaldi, R. A., Santorelli, F. M. (2000) A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling Neurological Sciences . 21 (5 Suppl): S983-984 . |
3 | 11245730 | 2001 | Carrozzo, R., Tessa, A., Vazquez-Memije, M. E., Piemonte, F., Patrono, C., Malandrini, A., Dionisi-Vici, C., Vilarinho, L., Villanova, M., Schagger, H., Federico, A., Bertini, E., Santorelli, F. M. (2001) The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome Neurology . 56 (5): 687-690 . |
4 | 11731285 | 2002 | Akagi, M., Inui, K., Tsukamoto, H., Sakai, N., Muramatsu, T., Yamada, M., Matsuzaki, K., Goto, Y., Nonaka, I., Okada, S. (2002) A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome Neuromuscular Disorders 12 (1): 53-55 . |
5 | 15176724 | 2004 | Carrozzo, R., Rizza, T., Lucioli, S., Pierini, R., Bertini, E., Santorelli, F. M. (2004) A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli Acta Paediatrica. Supplementum . 93 (445): 65-67 . |
6 | 18402672 | 2008 | Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 . |
7 | 19875463 | 2010 | D'Aurelio, M., Vives-Bauza, C., Davidson, M. M., Manfredi, G. (2010) Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells Human Molecular Genetics . 19 (2): 374-386 . |
8 | 29253894 | 2017 | 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 . |
9 | 29307858 | 2019 | Larson, A. A., Balasubramaniam, S., Christodoulou, J., Burrage, L. C., Marom, R., Graham, B. H., Diaz, G. A., Glamuzina, E., Hauser, N., Heese, B., Horvath, G., Mattman, A., van Karnebeek, C., Lane Rutledge, S., Williamson, A., Estrella, L., Van Hove, J. K. L., Weisfeld-Adams, J. D. (2019) Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6 Mitochondrion . 44 (): 58-64 . |