| 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 | 19160410 | 2009 | Vazquez-Memije, M. E., Rizza, T., Meschini, M. C., Nesti, C., Santorelli, F. M., Carrozzo, R. (2009) Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene Journal of Cellular Biochemistry . 106 (5): 878-886 . |
| 8 | 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 . |
| 9 | 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 . |
| 10 | 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 . |
| 11 | 30763462 | 2019 | Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 . |
| 12 | 38465286 | 2024 | Nogueira, C., Pereira, C., Silva, L., Laranjeira, M., Lopes, A., Neiva, R., Rodrigues, E., Campos, T., Martins, E., Bandeira, A., Coelho, M., Magalhaes, M., Damasio, J., Gaspar, A., Janeiro, P., Gomes, A. L., Ferreira, A. C., Jacinto, S., Vieira, J. P., Diogo, L., Santos, H., Mendonca, C., Vilarinho, L. (2024) The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study Frontiers in Cell and Developmental Biology . 12 (): 1331351 . |