MITOMAP References for Variant T-G at 8993

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18256697 Alexeyev, M. F., Venediktova, N., Pastukh, V., Shokolenko, I., Bonilla, G., Wilson, G. L. (2008) Selective elimination of mutant mitochondrial genomes as therapeutic strategy for the treatment of NARP and MILS syndromes Gene Therapy . 15 (7): 516-523 .
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18850577 Arnold, R. S., Sun, C. Q., Richards, J. C., Grigoriev, G., Coleman, I. M., Nelson, P. S., Hsieh, C. L., Lee, J. K., Xu, Z., Rogatko, A., Osunkoya, A. O., Zayzafoon, M., Chung, L., Petros, J. A. (2009) Mitochondrial DNA mutation stimulates prostate cancer growth in bone stromal environment Prostate . 69 (1): 1-11
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27450367 Balasubramaniam, S., Lewis, B., Mock, D. M., Said, H. M., Tarailo-Graovac, M., Mattman, A., van Karnebeek, C. D., Thorburn, D. R., Rodenburg, R. J., Christodoulou, J. (2017) Leigh-Like syndrome due to homoplasmic m.8993T>G variant with hypocitrullinemia and unusual biochemical features suggestive of multiple carboxylase deficiency (MCD) JIMD Reports . 33 (): 99-107 .
30768233 Bandeira, A. O. (2019) Leigh Syndrome: a case report with a mitochondrial DNA mutation Revista Paulista de Pediatria . 37 (1): 136 .
17568559 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 .
10660580 Baracca, A., Barogi, S., Carelli, V., Lenaz, G., Solaini, G. (2000) Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a Journal of Biological Chemistry . 275 (6): 4177-4182 .
9199572 Blok, R.B., Gook, D.A., Thorburn, D.R., Dahl, H.H. (1997) Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes American Journal of Human Genetics . 60 (6): 1495-1501 .
NA 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 .
17518546 Bonnet, C., Kaltimbacher, V., Ellouze, S., Augustin, S., Benit, P., Forster, V., Rustin, P., Sahel, J. A., Corral-Debrinski, M. (2007) Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits Rejuvenation Research . 10 (2): 127-144 .
10426322 Brini, M., Pinton, P., King, M.P., Davidson, M., Schon, E.A., Rizzuto, R. (1999) A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency Nature Medicine . 5 (8): 951-954 .
20123042 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 .
11843698 Carelli, V., Baracca, A., Barogi, S., Pallotti, F., Valentino, M. L., Montagna, P., Zeviani, M., Pini, A., Lenaz, G., Baruzzi, A., Solaini, G. (2002) Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation Archives of Neurology . 59 (2): 264-270 .
16483543 Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., Bruno, C. (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Biochemical and Biophysical Research Communications . 342 (2): 387-393 .
29587845 Chin, R. M., Panavas, T., Brown, J. M., Johnson, K. K. (2018) Patient-derived lymphoblastoid cell lines harboring mitochondrial DNA mutations as tool for small molecule drug discovery BMC Research Notes . 11 (1): 205 .
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30369864 Chinnery, P. F., Gomez-Duran, A. (2018) Oldies but goldies mtDNA population variants and neurodegenerative diseases Frontiers in Neuroscience . 12 (): 682 .
11074292 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 .
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18261463 Dassa, E. P., Paupe, V., Goncalves, S., Rustin, P. (2008) The mtDNA NARP mutation activates the actin-Nrf2 signaling of antioxidant defenses Biochemical and Biophysical Research Communications . 368 (3): 620-624 .
19875463 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 .
34829316 Dawod, P. G. A., Jancic, J., Marjanovic, A., Brankovic, M., Jankovic, M., Samardzic, J., Gamil Anwar Dawod, A., Novakovic, I., Abdel Motaleb, F. a. I., Radlovic, V., Kostic, V. r. S., Nikolic, D. (2021) Mutational analysis and mtDNA haplogroup characterization in three Serbian cases of mitochondrial encephalomyopathies and literature review Diagnostics 11 (11): 1969 .
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17403843 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 .
9858860 Alves-Silva, J., Guimaraes, P. E., Rocha, J., Pena, S. D., Prado, V. F. (1999) Identification in Portugal and Brazil of a mtDNA lineage containing a 9-bp triplication of the intergenic COII/tRNALys region Human Heredity . 49 (1): 56-58 .
8750605 Degoul, F., Diry, M., Rodriguez, D., Robain, O., Francois, D., Ponsot, G., Marsac, C., Desguerre, I. (1995) Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation Journal of Inherited Metabolic Disease . 18 (6): 682-688 .
8687192 DiMauro, S., De Vivo, D. C. (1996) Genetic heterogeneity in Leigh syndrome Annals of Neurology . 40 (1): 5-7 .
19370763 Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 .
34080141 Dunn, D. A., Pinkert, C. A. (2021) Allotopic expression of ATP6 in mouse as a transgenic model of mitochondrial disease Methods in Molecular Biology . 2277 (): 1-13 .
18674747 Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L., Chinnery, P. F. (2008) Pathogenic mitochondrial DNA mutations are common in the general population American Journal of Human Genetics . 83 (2): 254-260 .
16546428 Enns, G. M., Bai, R. K., Beck, A. E., Wong, L. J. (2006) Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load Molecular Genetics and Metabolism . 88 (4): 364-371 .
9329425 Ferlin, T., Landrieu, P., Rambaud, C., Fernandez, H., Dumoulin, R., Rustin, P., Mousson, B. (1997) Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome Journal of Pediatrics . 131 (3): 447-449 .
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27209570 Finsterer, J., Zarrouk-Mahjoub, S. (2016) Affection of the frontal lobe in Leigh syndrome due to the m.8993T>G mutation Journal of the Neurological Sciences . 366 (): 249-250 .
30726454 Finsterer, J. (2019) Adverse reaction to anesthesia in a m.8993T>C carrier with Leigh Syndome, Re: Leigh Syndrome: a case report with a mitochondrial DNA mutation Revista Paulista de Pediatria . 37 (1): 135 .
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7529982 Fryer, A., Appleton, R., Sweeney, M.G., Rosenbloom, L., Harding, A.E. (1994) Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'. Archives of Disease in Childhood . 71 (5): 419-422 .
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27466392 Gammage, P. A., Gaude, E., Van Haute, L., Rebelo-Guiomar, P., Jackson, C. B., Rorbach, J., Pekalski, M. L., Robinson, A. J., Charpentier, M., Concordet, J. P., Frezza, C., Minczuk, M. (2016) Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs Nucleic Acids Research . 44 (16): 7804-7816 .
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29452638 Gaude, E., Schmidt, C., Gammage, P. A., Dugourd, A., Blacker, T., Chew, S. P., Saez-Rodriguez, J., O'Neill, J. S., Szabadkai, G., Minczuk, M., Frezza, C. (2018) NADH shuttling couples cytosolic reductive carboxylation of glutamine with glycolysis in cells with mitochondrial dysfunction Molecular Cell . 69 (4): 581-593 e7 .
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22241703 Henriques, M., Diogo, L., Garcia, P., Pratas, J., Simoes, M., Grazina, M. (2012) Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association Journal of Child Neurology . 27 (8): 1059-1061 .
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