MITOMAP References for Mutation T-G at 8993

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1 8095070 1993 Ciafaloni, E., Santorelli, F.M., Shanske, S., Deonna, T., Roulet, E., Janzer, C., Pescia, G., DiMauro, S. (1993) Maternally inherited Leigh syndrome Journal of Pediatrics . 122 (3): 419-422 .
2 1539598 1992 Harding, A.E., Holt, I.J., Sweeney, M.G., Brockington, M., Davis, M.B. (1992) Prenatal diagnosis of mitochondrial DNA8993 T-G disease American Journal of Human Genetics . 50 (3): 629-633 .
3 2137962 1990 Holt, I.J., Harding, A.E., Petty, R.K., Morgan-Hughes, J.A. (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy American Journal of Human Genetics . 46 (3): 428-433 .
4 1442494 1992 Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T., Ozawa, T. (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy American Heart Journal . 124 (5): 1263-1269 .
5 8240109 1993 Ortiz, R.G., Newman, N.J., Shoffner, J.M., Kaufman, A.E., Koontz, D.A., Wallace, D.C. (1993) Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation Archives of Ophthalmology . 111 (11): 1525-1530 .
6 8042671 1994 Pastores, G.M., Santorelli, F.M., Shanske, S., Gelb, B.D., Fyfe, B., Wolfe, D., Willner, J.P. (1994) Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G) American Journal of Medical Genetics . 50 (3): 265-271 .
7 8435424 1993 Puddu, P., Barboni, P., Mantovani, V., Montagna, P., Cerullo, A., Bragliani, M., Molinotti, C., Caramazza, R. (1993) Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family British Journal of Ophthalmology . 77 (2): 84-88 .
8 8250532 1993 Santorelli, F.M., Shanske, S., Macaya, A., DeVivo, D.C., DiMauro, S. (1993) The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome Annals of Neurology . 34 (6): 827-834 .
9 1436530 1992 Shoffner, J.M., Fernhoff, M.D., Krawiecki, N.S., Caplan, D.B., Holt, P.J., Koontz, D.A., Takei, Y., Newman, N.J., Ortiz, R.G., Polak, M., Ballinger, S.W., Lott, M.T., Wallace, D.C. (1992) Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation Neurology . 42 (11): 2168-2174 .
10 1550128 1992 Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J.T.R., Wherret, J., Smith, C., Rudd, N., Petrova-Benedict, R., Robinson, B.H. (1992) Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high American Journal of Human Genetics . 50 (4): 852-858 .
11 8476414 1993 Tatuch, Y., Robinson, B.H. (1993) The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria Biochemical and Biophysical Research Communications . 192 (-): 124-128 .
12 8078883 1994 Trounce, I., Neill, S., Wallace, D.C. (1994) Cytoplasmic transfer of the mtDNA nt 8993 TG (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio Proceedings of the National Academy of Sciences of the United States of America . 91 (18): 8334-8338 .
13 8505474 1993 Yoshinaga, H., Ogino, T., Ohtahara, S., Sakuta, R., Nonaka, I., Horai, S. (1993) A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome Journal of Child Neurology . 8 (-): 129-133 .
14 7529982 1994 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 .
15 7605802 1995 Houstek, J., Klement, P., Hermanska, J., Houstkova, H., Hansikova, H., Van den Bogert, C., Zeman, J. (1995) Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA Biochimica et Biophysica Acta . 1271 (40577): 349-357 .
16 7798979 1994 Lodi, R., Montagna, P., Iotti, S., Zaniol, P., Barboni, P., Puddu, P., Barbiroli, B. (1994) Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome Journal of Neurology, Neurosurgery and Psychiatry . 57 (12): 1492-1496 .
17 7603783 1995 Makela-Bengs, P., Suomalainen, A., Majander, A., Rapola, J., Kalimo, H., Nuutila, A., Pihko, H. (1995) Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome Pediatric Research . 37 (5): 634-639 .
18 9199572 1997 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 .
19 9329425 1997 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 .
20 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 .
21 9222207 1997 Santorelli, F.M., Tanji, K., Shanske, S., DiMauro, S. (1997) Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation Neurology . 49 (1): 270-273 .
22 9556461 1998 Takahashi, S., Makita, Y., Oki, J., Miyamoto, A., Yanagawa, J., Naito, E., Goto, Y., Okuno, A. (1998) De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome American Journal of Human Genetics . 62 (3): 717-719 .
23 9686360 1998 Rabier, D., Diry, C., Rotig, A., Rustin, P., Heron, B., Bardet, J., Parvy, P., Ponsot, G., Marsac, C., Saudubray, J.M., Munnich, A., Kamoun, P. (1998) Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation? Journal of Inherited Metabolic Disease . 21 (3): 216-219 .
24 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 .
25 8687192 1996 DiMauro, S., De Vivo, D. C. (1996) Genetic heterogeneity in Leigh syndrome Annals of Neurology . 40 (1): 5-7 .
26 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 .
27 8830176 1996 Vazquez-Memije, M.E., Shanske, S., Santorelli, F.M., Kranz-Eble, P., Davidson, E., DeVivo, D.C., DiMauro, S. (1996) Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome Journal of Inherited Metabolic Disease . 19 (1): 43-50 .
28 10426322 1999 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 .
29 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 .
30 10092618 1999 Manfredi, G., Gupta, N., Vazquez-Memije, M.E., Sadlock, J.E., Spinazzola, A., De Vivo, D.C., Schon, E.A. (1999) Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene Journal of Biological Chemistry . 274 (14): 9386-9391 .
31 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 .
32 10889120 2000 Hayashi, N., Geraghty, M. T., Green, W. R. (2000) Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome Ophthalmology . 107 (7): 1397-1402 .
33 10611124 2000 Mirabella, M., Di Giovani, S., Silvestri, G., Tonali, P., Servidei, S. (2000) Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: A potential pathogenic mechanism. Brain . 123 (Pt 1): 93-104 .
34 11925565 2002 Manfredi, G., Fu, J., Ojaimi, J., Sadlock, J. E., Kwong, J. Q., Guy, J., Schon, E. A. (2002) Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus Nature Genetics . 30 (4): 394-399 .
35 12372991 2002 Tanaka, M., Borgeld, H. J., Zhang, J., Muramatsu, S., Gong, J. S., Yoneda, M., Maruyama, W., Naoi, M., Ibi, T., Sahashi, K., Shamoto, M., Fuku, N., Kurata, M., Yamada, Y., Nishizawa, K., Akao, Y., Ohishi, N., Miyabayashi, S., Umemoto, H., Muramatsu, T., Furukawa, K., Kikuchi, A., Nakano, I., Ozawa, K., Yagi, K. (2002) Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria Journal of Biomedical Science . 9 (6 Pt 1): 534-541 .
36 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 .
37 14998933 2004 Mattiazzi, M., Vijayvergiya, C., Gajewski, C. D., DeVivo, D. C., Lenaz, G., Wiedmann, M., Manfredi, G. (2004) The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants Human Molecular Genetics . 13 (8): 869-879 .
38 16639504 2006 Kin, T., Sugie, K., Hirano, M., Goto, Y., Nishino, I., Ueno, S. (2006) Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia Journal of Human Genetics . 51 (6): 555-558 .
39 17886296 2007 Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 .
40 17545557 2007 Steffann, J., Gigarel, N., Corcos, J., Bonniere, M., Encha-Razavi, F., Sinico, M., Prevot, S., Dumez, Y., Yamgnane, A., Frydman, R., Munnich, A., Bonnefont, J. P. (2007) Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome Journal of Medical Genetics . 44 (10): 664-669 .
41 17257906 2007 Nishigaki, Y., Yamada, Y., Fuku, N., Matsuo, H., Segawa, T., Watanabe, S., Kato, K., Yokoi, K., Yamaguchi, S., Nozawa, Y., Tanaka, M. (2007) Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females Mitochondrion . 7 (40545): 72-79 .
42 18261463 2008 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 .
43 18413591 2008 Garcia-Cazorla, A., Quadros, E. V., Nascimento, A., Garcia-Silva, M. T., Briones, P., Montoya, J., Ormazabal, A., Artuch, R., Sequeira, J. M., Blau, N., Arenas, J., Pineda, M., Ramaekers, V. T. (2008) Mitochondrial diseases associated with cerebral folate deficiency Neurology . 70 (16): 1360-1362 .
44 17518546 2007 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 .
45 17170133 2006 Minczuk, M., Papworth, M. A., Kolasinska, P., Murphy, M. P., Klug, A. (2006) Sequence-specific modification of mitochondrial DNA using a chimeric zinc finger methylase Proceedings of the National Academy of Sciences of the United States of America . 103 (52): 19689-19694 .
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47 18850577 2009 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
48 16483543 2006 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 .
49 20471050 2010 Fraser, J. A., Biousse, V., Newman, N. J. (2010) The neuro-ophthalmology of mitochondrial disease Survey of Ophthalmology . 55 (4): 299-334 .
50 20854934 2011 Figueroa-Martinez, F., Vazquez-Acevedo, M., Cortes-Hernandez, P., Garcia-Trejo, J. J., Davidson, E., King, M. P., Gonzalez-Halphen, D. (2011) What limits the allotopic expression of nucleus-encoded mitochondrial genes? The case of the chimeric Cox3 and Atp6 genes Mitochondrion . 11 (1): 147-154 .
51 21550418 2011 Wojewoda, M., Duszynski, J., Szczepanowska, J. (2011) NARP mutation and mtDNA depletion trigger mitochondrial biogenesis which can be modulated by selenite supplementation The International Journal of Biochemistry and Cell Biology . 43 (8): 1178-1186 .
52 20138159 2010 Wojewoda, M., Duszynski, J., Szczepanowska, J. (2010) Antioxidant defence systems and generation of reactive oxygen species in osteosarcoma cells with defective mitochondria: effect of selenium Biochimica et Biophysica Acta . 1797 (40701): 890-896 .
53 22080835 2012 Gilkerson, R. W., De Vries, R. L., Lebot, P., Wikstrom, J. D., Torgyekes, E., Shirihai, O. S., Przedborski, S., Schon, E. A. (2012) Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition Human Molecular Genetics . 21 (5): 978-990 .
54 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 .
55 19891062 2009 Thorburn, D., Wilton, L., Stock-Myer, S. (2009) Healthy baby girl born following preimplantation genetic diagnosis for mitochondrial DNA m.8993T>G mutation. Abstract # 117: Abstracts of the 11th International Congress of Inborn Errors of Metabolism. Platform Presentation 3: Mitochondrial Disorders. Molecular Genetics and Metabolism . 98 (1-2): 5-6 .
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58 28385334 2017 Zhang, J., Liu, H., Luo, S., Lu, Z., Chavez-Badiola, A., Liu, Z., Yang, M., Merhi, Z., Silber, S. J., Munne, S., Konstantinidis, M., Wells, D., Tang, J. J., Huang, T. (2017) Live birth derived from oocyte spindle transfer to prevent mitochondrial disease Reproductive Biomedicine Online . 34 (4): 361-368. Corrigendum: Reprod Biomed Online 2017 (Jul) 35(1):49 .
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60 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 .
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62 30369864 2018 Chinnery, P. F., Gomez-Duran, A. (2018) Oldies but goldies mtDNA population variants and neurodegenerative diseases Frontiers in Neuroscience . 12 (): 682 .
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66 11076946 2001 Nijtmans, L. G., Henderson, N. S., Attardi, G., Holt, I. J. (2001) Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene Journal of Biological Chemistry . 276 (9): 6755-6762 .
67 10660580 2000 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 .
68 14748908 2004 Marotta, R., Chin, J., Quigley, A., Katsabanis, S., Kapsa, R., Byrne, E., Collins, S. (2004) Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001 Internal Medicine Journal . 34 (40545): 10-19 .
69 15647368 2005 Petros, J. A., Baumann, A. K., Ruiz-Pesini, E., Amin, M. B., Sun, C. Q., Hall, J., Lim, S., Issa, M. M., Flanders, W. D., Hosseini, S. H., Marshall, F. F., Wallace, D. C. (2005) mtDNA mutations increase tumorigenicity in prostate cancer Proceedings of the National Academy of Sciences of the United States of America . 102 (3): 719-724 .
70 8751860 1996 Pallotti, F., Chen, X., Bonilla, E., Schon, E. A. (1996) Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging American Journal of Human Genetics . 59 (3): 591-602 .
71 16050991 2005 Meierhofer, D., Mayr, J. A., Ebner, S., Sperl, W., Kofler, B. (2005) Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations Mitochondrion . 5 (4): 282-296 .
72 9858860 1999 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 .
73 16402916 2006 Sgarbi, G., Baracca, A., Lenaz, G., Valentino, L. M., Carelli, V., Solaini, G. (2006) Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA Biochemical Journal . 395 (3): 493-500 .
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76 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 .
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86 19433277 2009 Mkaouar-Rebai, E., Chaari, W., Younes, S., Bousoffara, R., Sfar, M. T., Fakhfakh, F. (2009) Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family Pediatric Neurology . 40 (6): 437-442 .
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88 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 .
89 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 .
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