Index | PMID | Date | Reference |
---|---|---|---|
1 | 8395787 | 1993 | De Vries, D.D., Van Engelen, B.G., Gabreels, F.J., Ruitenbeek, W., Van Oost, B.A. (1993) A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome Annals of Neurology . 34 (3): 410-412 . |
2 | 8190310 | 1994 | Santorelli, F.M., Shanske, S., Jain, K.D., Tick, D., Schon, E.A., DiMauro, S. (1994) A T-C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome Neurology . 44 (5): 972-974 . |
3 | 8602753 | 1996 | Rahman, S., Blok, R.B., Dahl, H.H., Danks, D.M., Kirby, D.M., Chow, C.W., Christodoulou, J., Thorburn, D.R. (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities Annals of Neurology . 39 (3): 343-351 . |
4 | 8687192 | 1996 | DiMauro, S., De Vivo, D. C. (1996) Genetic heterogeneity in Leigh syndrome Annals of Neurology . 40 (1): 5-7 . |
5 | 9568930 | 1998 | Fujii, T., Hattori, H., Higuchi, Y., Tsuji, M., Mitsuyoshi, I. (1998) Phenotypic differences between T-C and T-G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome Pediatric Neurology . 18 (3): 275-277 . |
6 | 9701486 | 1998 | Mak, S.C., Chi, C.S., Tsai, C.R. (1998) Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure Journal of Child Neurology . 13 (7): 349-351 . |
7 | 9762610 | 1998 | Chakrapani, A., Heptinstall, L., Walter, J. (1998) A family with Leigh syndrome caused by the rarer T8993C mutation Journal of Inherited Metabolic Disease . 21 (6): 685-686 . |
8 | 9870208 | 1998 | Vazquez-Memije, M.E., Shanske, S., Santorelli, F.M., Kranz-Eble, P., DeVivo, D.C., DiMauro, S. (1998) Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations Journal of Inherited Metabolic Disease . 21 (8): 829-836 . |
9 | 10222646 | 1999 | Alves-Silva, J., Santos, M. S., Pena, S. D., Prado, V. F. (1999) Multiple geographic sources of region V 9-bp deletion haplotypes in Brazilians Human Biology . 71 (2): 245-259 . |
10 | 10417290 | 1999 | White, S. L., Collins, V. R., Wolfe, R., Cleary, M. A., Shanske, S., DiMauro, S., Dahl, H. H., Thorburn, D. R. (1999) Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993 American Journal of Human Genetics . 65 (2): 474-482 . |
11 | 10467733 | 1999 | Hartzog, P. E., Gardner, J. L., Cain, B. D. (1999) Modeling the Leigh syndrome nt8993 T-->C mutation in Escherichia coli F1F0 ATP synthase International Journal of Biochemistry and Cell Biology . 31 (7): 769-776 . |
12 | 10862082 | 2000 | Rubio-Gozalbo, M. E., Dijkman, K. P., van den Heuvel, L. P., Sengers, R. C., Wendel, U., Smeitink, J. A. (2000) Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations Human Mutation . 15 (6): 522-532 . |
13 | 11074292 | 2000 | Chinnery, P. F., Thorburn, D. R., Samuels, D. C., White, S. L., Dahl, H. M., Turnbull, D. M., Lightowlers, R. N., Howell, N. (2000) The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends in Genetics . 16 (11): 500-505 . |
14 | 15324306 | 2004 | Pallotti, F., Baracca, A., Hernandez-Rosa, E., Walker, W. F., Solaini, G., Lenaz, G., Melzi D'Eril, G. V., Dimauro, S., Schon, E. A., Davidson, M. M. (2004) Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations Biochemical Journal . 384 (Pt 2): 287-293 . |
15 | 15466086 | 2004 | Scaglia, F., Towbin, J. A., Craigen, W. J., Belmont, J. W., Smith, E. O., Neish, S. R., Ware, S. M., Hunter, J. V., Fernbach, S. D., Vladutiu, G. D., Wong, L. J., Vogel, H. (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease Pediatrics . 114 (4): 925-931 . |
16 | 16049925 | 2005 | Rantamaki, M. T., Soini, H. K., Finnila, S. M., Majamaa, K., Udd, B. (2005) Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation Annals of Neurology . 58 (2): 337-340 . |
17 | 16532470 | 2006 | Morava, E., Rodenburg, R. J., Hol, F., de Vries, M., Janssen, A., van den Heuvel, L., Nijtmans, L., Smeitink, J. (2006) Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations American Journal of Medical Genetics. Part A . 140 (8): 863-868 . |
18 | 17323145 | 2007 | Zhang, Y., Yang, Y. L., Sun, F., Cai, X., Qian, N., Yuan, Y., Wang, Z. X., Qi, Y., Xiao, J. X., Wang, X. Y., Zhang, Y. H., Jiang, Y. W., Qin, J., Wu, X. R. (2007) Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome Journal of Inherited Metabolic Disease . 30 (2): 265 . |
19 | 17403843 | 2007 | Debray, F. G., Lambert, M., Chevalier, I., Robitaille, Y., Decarie, J. C., Shoubridge, E. A., Robinson, B. H., Mitchell, G. A. (2007) Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases Pediatrics . 119 (4): 722-733 . |
20 | 17568559 | 2007 | Baracca, A., Sgarbi, G., Mattiazzi, M., Casalena, G., Pagnotta, E., Valentino, M. L., Moggio, M., Lenaz, G., Carelli, V., Solaini, G. (2007) Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 Biochimica et Biophysica Acta . 1767 (7): 913-919 . |
21 | 18055910 | 2007 | Craig, K., Elliott, H. R., Keers, S. M., Lambert, C., Pyle, A., Graves, T. D., Woodward, C., Sweeney, M. G., Davis, M. B., Hanna, M. G., Chinnery, P. F. (2007) Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation Journal of Medical Genetics . 44 (12): 797-799 . |
22 | 18402672 | 2008 | Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 . |
23 | 18496570 | 2008 | Kyriakouli, D. S., Boesch, P., Taylor, R. W., Lightowlers, R. N. (2008) Progress and prospects: gene therapy for mitochondrial DNA disease Gene Therapy . 15 (14): 1017-1023 . |
24 | 18620007 | 2009 | Kucharczyk, R., Zick, M., Bietenhader, M., Rak, M., Couplan, E., Blondel, M., Caubet, S. D., di Rago, J. P. (2009) Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches Biochimica et Biophysica Acta . 1793 (1): 186-199 . |
25 | 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 . |
26 | 19747204 | 2010 | Verity, C. M., Winstone, A. M., Stellitano, L., Krishnakumar, D., Will, R., McFarland, R. (2010) The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study Developmental Medicine and Child Neurology . 52 (5): 434-140 . |
27 | 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 . |
28 | 20064630 | 2010 | Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 . |
29 | 20123042 | 2010 | Cao, Y., Ma, Y., Zhang, Y., Li, Y., Fang, F., Wang, S., Bu, D., Xu, Y., Pei, P., Li, L., Xiao, Y., Wu, H., Yang, Y., Zou, L., Qi, Y. (2010) Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies Mitochondrion . 10 (4): 330-334 . |
30 | 21457906 | 2011 | Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 . |
31 | 23297368 | 2013 | Samuels, D. C., Wonnapinij, P., Chinnery, P. F. (2013) Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer? Human Reproduction (Oxford, England) . 28 (3): 554-559 . |
32 | 24153443 | 2013 | Aure, K., Dubourg, O., Jardel, C., Clarysse, L., Sternberg, D., Fournier, E., Laforet, P., Streichenberger, N., Petiot, P., Gervais-Bernard, H., Vial, C., Bedat-Millet, A. L., Drouin-Garraud, V., Bouillaud, F., Vandier, C., Fontaine, B., Lombes, A. (2013) Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations Neurology . 81 (21): 1810-1818 . |
33 | 24642831 | 2014 | Nesbitt, V., Alston, C. L., Blakely, E. L., Fratter, C., Feeney, C. L., Poulton, J., Brown, G. K., Turnbull, D. M., Taylor, R. W., McFarland, R. (2014) A national perspective on prenatal testing for mitochondrial disease European Journal of Human Genetics . 22 (11): 1255-1259 . |
34 | 25192510 | 2014 | Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 . |
35 | 26404827 | 2015 | Lightowlers, R. N., Taylor, R. W., Turnbull, D. M. (2015) Mutations causing mitochondrial disease: What is new and what challenges remain? Science . 349 (6255): 1494-1499 . |
36 | 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 . |
37 | 29512743 | 2018 | Weerasinghe, C. A. L., Bui, B. T., Vu, T. T., Nguyen, H. T., Phung, B. K., Nguyen, V. M., Pham, V. A., Cao, V. H., Phan, T. N. (2018) Leigh syndrome T8993C mitochondrial DNA mutation: Heteroplasmy and the first clinical presentation in a Vietnamese family Molecular Medicine Reports . 17 (5): 6919-6925 . |
38 | 30095618 | 2018 | Ma, Y. Y., Li, X. Y., Li, Z. Q., Song, J. Q., Hou, J., Li, J. H., Sun, L., Jiang, J., Yang, Y. L. (2018) Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency Medicine (Baltimore) . 97 (32): e11606 . |
39 | 30128709 | 2018 | Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 . |
40 | 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 . |
41 | 31187502 | 2019 | Ng, Y. S., Martikainen, M. H., Gorman, G. S., Blain, A., Bugiardini, E., Bunting, A., Schaefer, A. M., Alston, C. L., Blakely, E. L., Sharma, S., Hughes, I., Lim, A., de Goede, C., McEntagart, M., Spinty, S., Horrocks, I., Roberts, M., Woodward, C. E., Chinnery, P. F., Horvath, R., Nesbitt, V., Fratter, C., Poulton, J., Hanna, M. G., Pitceathly, R. D. S., Taylor, R. W., Turnbull, D. M., McFarland, R. (2019) Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study Annals of Neurology . 86 (2): 310-315 . |
42 | NA | 2020 | Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 . |
43 | 31996241 | 2020 | Schubert Baldo, M., Vilarinho, L. (2020) Molecular basis of Leigh syndrome: a current look Orphanet Journal of Rare Diseases . 15 (1): 31 . |
44 | 32042921 | 2020 | Stendel, C., Neuhofer, C., Floride, E., Yuqing, S., Ganetzky, R. D., Park, J., Freisinger, P., Kornblum, C., Kleinle, S., Schols, L., Distelmaier, F., Stettner, G. M., Buchner, B., Falk, M. J., Mayr, J. A., Synofzik, M., Abicht, A., Haack, T. B., Prokisch, H., Wortmann, S. B., Murayama, K., Fang, F., Klopstock, T., Group, A. T. P. S. (2020) Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration Neurology. Genetics . 6 (1): e393 . |
45 | 33064405 | 2020 | Vellers, H. L., Verhein, K. C., Burkholder, A. B., Lee, J., Kim, Y., Lightfoot, J. T., Shi, M., Weinberg, C. R., Sarzynski, M. A., Bouchard, C., Kleeberger, S. R. (2020) Association between mitochondrial DNA sequence variants and V O2 max trainability Medicine and Science in Sports and Exercise . 52 (11): 2303-2309 . |