MITOMAP References for Mutation T-G at 8993

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1 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 .
2 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 .
3 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 .
4 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 .
5 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 .
6 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 .
7 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 .
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 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 .
10 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 .
11 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 .
12 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 .
13 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 .
14 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 .
15 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 .
16 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 .
17 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 .
18 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 .
19 8687192 1996 DiMauro, S., De Vivo, D. C. (1996) Genetic heterogeneity in Leigh syndrome Annals of Neurology . 40 (1): 5-7 .
20 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 .
21 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 .
22 8858707 1996 Mak, S. C., Chi, C. S., Liu, C. Y., Pang, C. Y., Wei, Y. H. (1996) Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers Pediatric Neurology . 15 (1): 72-75 .
23 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 .
24 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 .
25 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 .
26 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 .
27 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 .
28 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 .
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 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 .
31 10590437 1999 White, S. L., Shanske, S., Biros, I., Warwick, L., Dahl, H. M., Thorburn, D. R., Di Mauro, S. (1999) Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA Prenatal Diagnosis . 19 (12): 1165-1168 .
32 10611123 2000 Chinnery, P. F., Elliott, C., Green, G. R., Rees, A., Coulthard, A., Turnbull, D. M., Griffiths, T. D. (2000) The spectrum of hearing loss due to mitochondrial DNA defects Brain . 123 (Pt 1): 82-92 .
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 10669202 2000 Vilarinho, L., Leao, E., Barbot, C., Santos, M., Rocha, H., Santorelli, F. M. (2000) Clinical and molecular studies in three Portuguese mtDNA T8993G families Pediatric Neurology . 22 (1): 29-32 .
35 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 .
36 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 .
37 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 .
38 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 .
39 11331900 2001 Smeitink, J., van den Heuvel, L., DiMauro, S. (2001) The genetics and pathology of oxidative phosphorylation Nature Reviews. Genetics . 2 (5): 342-352 .
40 11453454 2001 Tsao, C. Y., Mendell, J. R., Bartholomew, D. (2001) High mitochondrial DNA T8993G mutation (<90 pct) without typical features of Leigh's and NARP syndromes Journal of Child Neurology . 16 (7): 533-535 .
41 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 .
42 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 .
43 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 .
44 15282179 2004 Lenaz, G., Baracca, A., Carelli, V., D'Aurelio, M., Sgarbi, G., Solaini, G. (2004) Bioenergetics of mitochondrial diseases associated with mtDNA mutations Biochimica et Biophysica Acta . 1658 (1-2): 89-94 .
45 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 .
46 15753359 2005 Shidara, Y., Yamagata, K., Kanamori, T., Nakano, K., Kwong, J. Q., Manfredi, G., Oda, H., Ohta, S. (2005) Positive contribution of pathogenic mutations in the mitochondrial genome to the promotion of cancer by prevention from apoptosis Cancer Research . 65 (5): 1655-1663 .
47 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 .
48 16337222 2006 Ueki, I., Koga, Y., Povalko, N., Akita, Y., Nishioka, J., Yatsuga, S., Fukiyama, R., Matsuishi, T. (2006) Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis Mitochondrion . 6 (1): 29-36 .
49 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 .
50 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 .
51 16525806 2006 Rojo, A., Campos, Y., Sanchez, J. M., Bonaventura, I., Aguilar, M., Garcia, A., Gonzalez, L., Rey, M. J., Arenas, J., Olive, M., Ferrer, I. (2006) NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study Acta Neuropathologica (Berlin) . 111 (6): 610-616 .
52 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 .
53 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 .
54 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 .
55 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 .
56 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 .
57 17452590 2007 Jung, J., Mauguiere, F., Clerc-Renaud, P., Ollagnon, E., de Camaret, B. M., Ryvlin, P. (2007) NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy Neurology . 68 (17): 1429-1430 .
58 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 .
59 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 .
60 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 .
61 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 .
62 18241671 2008 Strand, H., Ingebretsen, O. C., Nilssen, O. (2008) Real-time detection and quantification of mitochondrial mutations with oligonucleotide primers containing locked nucleic acid Clinica Chimica Acta . 390 (40545): 126-133 .
63 18256697 2008 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 .
64 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 .
65 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
66 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 .
67 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 .
68 18647627 2008 Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 .
69 18674747 2008 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 .
70 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
71 19370763 2009 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 .
72 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 .
73 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 .
74 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 .
75 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 .
76 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 .
77 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 .
78 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 .
79 20471050 2010 Fraser, J. A., Biousse, V., Newman, N. J. (2010) The neuro-ophthalmology of mitochondrial disease Survey of Ophthalmology . 55 (4): 299-334 .
80 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 .
81 21120938 2011 Monnot, S., Gigarel, N., Samuels, D. C., Burlet, P., Hesters, L., Frydman, N., Frydman, R., Kerbrat, V., Funalot, B., Martinovic, J., Benachi, A., Feingold, J., Munnich, A., Bonnefont, J. P., Steffann, J. (2011) Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system Human Mutation . 32 (1): 116-125 .
82 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 .
83 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 .
84 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 .
85 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 .
86 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 .
87 25152966 2014 Sinko, G., Garzuly, F., Kalman, B. (2014) Striking pathology in Leigh syndrome associated with the MTATP6 T8993G mutation Pediatric Neurology 51 (4): 585-586 .
88 25192510 2014 Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 .
89 25240982 2014 Mori, M., Mytinger, J. R., Martin, L. C., Bartholomew, D., Hickey, S. (2014) m.8993T>G-associated Leigh Syndrome with hypocitrullinemia on newborn screening JIMD Reports . 17 (): 47-51 .
90 25009317 2015 De Praeter, C., Vanlander, A., Vanhaesebrouck, P., Smet, J., Seneca, S., De Sutter, P., Van Coster, R. (2015) Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions European Journal of Pediatrics 174 (2): 267-270 .
91 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 .
92 27000225 2016 Iida, Y., Fujii, K., Mizuochi, H., Suwabe, S., Wakui, A., Uchikawa, H., Shimojo, N. (2016) Rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T>G mutation Journal of the Neurological Sciences . 363 (): 77-79 .
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