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 8750605 1995 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 .
19 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 .
20 8687192 1996 DiMauro, S., De Vivo, D. C. (1996) Genetic heterogeneity in Leigh syndrome Annals of Neurology . 40 (1): 5-7 .
21 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 .
22 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 .
23 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 .
24 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 .
25 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 .
26 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 .
27 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 .
28 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 .
29 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 .
30 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 .
31 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 .
32 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 .
33 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 .
34 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 .
35 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 .
36 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 .
37 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 .
38 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 .
39 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 .
40 10676807 2000 Kerrison, J. B., Biousse, V., Newman, N. J. (2000) Retinopathy of NARP syndrome Archives of Ophthalmology . 118 (2): 298-299 .
41 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 .
42 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 .
43 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 .
44 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 .
45 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 .
46 11371515 2001 Geromel, V., Kadhom, N., Cebalos-Picot, I., Ouari, O., Polidori, A., Munnich, A., Rotig, A., Rustin, P. (2001) Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA Human Molecular Genetics . 10 (11): 1221-1228 .
47 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 .
48 11730668 2001 Porto, F. B., Mack, G., Sterboul, M. J., Lewin, P., Flament, J., Sahel, J., Dollfus, H. (2001) Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation American Journal of Ophthalmology Case Reports . 132 (6): 935-937 .
49 11751691 2001 Srivastava, S., Moraes, C. T. (2001) Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease Human Molecular Genetics . 10 (26): 3093-3099 .
50 11843698 2002 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 .
51 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 .
52 12134275 2002 Playan, A., Solano-Palacios, A., Gonzalez de la Rosa, J. B., Merino-Arribas, J. M., Andreu, A. L., Lopez-Perez, M., Montoya, J. (2002) [Leigh syndrome resulting from a de novo mitochondrial DNA mutation (T8993G)] Revue Neurologique (Paris) 34 (12): 1124-1126 .
53 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 .
54 12404959 2002 Tesarova, M., Hansikova, H., Hlavata, A., Klement, P., Houst'kova, H., Houstek, J., Zeman, J. (2002) [Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families] Casopis Leekaru Ceskych 141 (17): 551-554 .
55 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 .
56 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 .
57 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 .
58 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 .
59 15694179 2005 Gigarel, N., Ray, P. F., Burlet, P., Frydman, N., Royer, G., Lebon, S., Bonnefont, J. P., Frydman, R., Munnich, A., Steffann, J. (2005) Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR Molecular Genetics and Metabolism . 84 (3): 289-292 .
60 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 .
61 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 .
62 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 .
63 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 .
64 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 .
65 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 .
66 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 .
67 16542579 2006 Yang, Y. L., Sun, F., Zhang, Y., Qian, N., Yuan, Y., Wang, Z. X., Qi, Y., Xiao, J. X., Wang, X. Y., Qi, Z. Y., Zhang, Y. H., Jiang, Y. W., Bao, X. H., Qin, J., Wu, X. R. (2006) Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome Chinese Medical Journal (English) . 119 (5): 373-377 .
68 16546428 2006 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 .
69 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 .
70 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 .
71 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 .
72 17276738 2007 Fujita, Y., Ito, M., Nozawa, Y., Yoneda, M., Oshida, Y., Tanaka, M. (2007) CHOP (C/EBP homologous protein) and ASNS (asparagine synthetase) induction in cybrid cells harboring MELAS and NARP mitochondrial DNA mutations Mitochondrion . 7 (1-2): 80-88 .
73 17276742 2007 Qi, Y., Zhang, Y., Wang, Z., Yang, Y., Yuan, Y., Niu, S., Pei, P., Wang, S., Ma, Y., Bu, D., Zou, L., Fang, F., Xiao, J., Sun, F., Zhang, Y., Wu, Y., Wang, S., Xiong, H., Wu, X. (2007) Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies Mitochondrion . 7 (1-2): 147-150 .
74 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 .
75 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 .
76 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 .
77 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 .
78 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 .
79 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 .
80 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 .
81 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 .
82 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 .
83 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 .
84 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
85 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 .
86 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 .
87 18647627 2008 Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 .
88 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 .
89 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 .
90 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
91 19144360 2009 Sobreira, C., Marques, W., Jr., Pontes Neto, O. M., Santos, A. C., Pina Neto, J. M., Barreira, A. A. (2009) Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course Journal of the Neurological Sciences . 278 (1-2): 132-134 .
92 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 .
93 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 .
94 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 .
95 19667215 2009 Sgarbi, G., Casalena, G. A., Baracca, A., Lenaz, G., DiMauro, S., Solaini, G. (2009) Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy Archives of Neurology . 66 (8): 951-957 .
96 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 .
97 19669818 2010 Shuk-kuen Chau, C., Kwok, K. L., Ng, D. K., Lam, C. W., Tong, S. F., Chan, Y. W., Siu, W. K., Yuen, Y. P. (2010) Maternally inherited Leigh syndrome: an unusual cause of infantile apnea Sleep and Breathing . 14 (2): 161-165 .
98 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 .
99 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 .
100 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 .
101 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 .
102 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 .
103 20471050 2010 Fraser, J. A., Biousse, V., Newman, N. J. (2010) The neuro-ophthalmology of mitochondrial disease Survey of Ophthalmology . 55 (4): 299-334 .
104 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 .
105 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 .
106 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 .
107 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 .
108 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 .
109 22241703 2012 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 .
110 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 .
111 23301511 2013 Mkaouar-Rebai, E., Chamkha, I., Mezghani, N., Ben Ayed, I., Fakhfakh, F. (2013) Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study Mitochondrial DNA . 24 (3): 163-178 .
112 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 .
113 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 .
114 25192510 2014 Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 .
115 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 .
116 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 .
117 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 .
118 26725255 2016 Gerards, M., Sallevelt, S. C., Smeets, H. J. (2016) Leigh syndrome: resolving the clinical and genetic heterogeneity paves the way for treatment options Molecular Genetics and Metabolism . 117 (3): 300-312 .
119 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 .
120 27129022 2016 Lopez-Gallardo, E., Llobet, L., Emperador, S., Montoya, J., Ruiz-Pesini, E. (2016) Effects of tributyltin chloride on cybrids with or without an ATP synthase pathologic mutation Environmental Health Perspectives . 124 (9): 1399-405 .
121 27206685 2016 Iida, Y., Fujii, K. (2016) Significance of rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T > G mutation Journal of the Neurological Sciences . 366 (): 248 .
122 27209570 2016 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 .
123 27466392 2016 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 .
124 27919073 2016 Kang, E., Wu, J., Gutierrez, N. M., Koski, A., Tippner-Hedges, R., Agaronyan, K., Platero-Luengo, A., Martinez-Redondo, P., Ma, H., Lee, Y., Hayama, T., Van Dyken, C., Wang, X., Luo, S., Ahmed, R., Li, Y., Ji, D., Kayali, R., Cinnioglu, C., Olson, S., Jensen, J., Battaglia, D., Lee, D., Wu, D., Huang, T., Wolf, D. P., Temiakov, D., Belmonte, J. C., Amato, P., Mitalipov, S. (2016) Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations Nature . 540 (7632): 270-275 [2016 author correction (2016) at doi.org/10.1038/s41586-019-0876-1; comment (2019) at doi.org/10.1038/s41586-019-1623-3] .
125 27450367 2017 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 .
126 27450679 2017 Sallevelt, S. C., de Die-Smulders, C. E., Hendrickx, A. T., Hellebrekers, D. M., de Coo, I. F., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R., Smeets, H. J. (2017) De novo mtDNA point mutations are common and have a low recurrence risk Journal of Medical Genetics . 54 (2): 73-83 .
127 28385333 2017 Alikani, M., Fauser, B. C. J., Garcia-Valesco, J. A., Simpson, J. L., Johnson, M. H. (2017) First birth following spindle transfer for mitochondrial replacement therapy: hope and trepidation Reproductive Biomedicine Online . 34 (4): 333-336 .
128 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 .
129 28429146 2017 Ogawa, E., Shimura, M., Fushimi, T., Tajika, M., Ichimoto, K., Matsunaga, A., Tsuruoka, T., Ishige, M., Fuchigami, T., Yamazaki, T., Mori, M., Kohda, M., Kishita, Y., Okazaki, Y., Takahashi, S., Ohtake, A., Murayama, K. (2017) Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients Journal of Inherited Metabolic Disease . 40 (5): 685-693 .
130 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 .
131 28754700 2018 Vachin, P., Adda-Herzog, E., Chalouhi, G., Elie, C., Rio, M., Rondeau, S., Gigarel, N., Jabot Hanin, F., Monnot, S., Borghese, R., Bengoa, J., Ville, Y., Rotig, A., Munnich, A., Bonnefont, J. P., Steffann, J. (2018) Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders Journal of Medical Genetics . 55 (2): 131-136 .
132 29101127 2018 Sofou, K., de Coo, I. F. M., Ostergaard, E., Isohanni, P., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., Lonnqvist, T., Bindoff, L. A., Tulinius, M., Darin, N. (2018) Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients Journal of Medical Genetics . 55 (1): 21-27 .
133 29224958 2018 Lemoine, S., Panaye, M., Rabeyrin, M., Errazuriz-Cerda, E., Mousson de Camaret, B., Petiot, P., Juillard, L., Guebre-Egziabher, F. (2018) Renal involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: a case report American Journal of Kidney Diseases . 71 (5): 754-757 .
134 29452638 2018 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 .
135 29587845 2018 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 .
136 29602698 2018 Uittenbogaard, M., Brantner, C. A., Fang, Z., Wong, L. C., Gropman, A., Chiaramello, A. (2018) Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome Molecular Genetics and Metabolism . 124 (1): 71-81 .
137 29850888 2018 Otten, A. B. C., Sallevelt, S., Carling, P. J., Dreesen, J., Drusedau, M., Spierts, S., Paulussen, A. D. C., de Die-Smulders, C. E. M., Herbert, M., Chinnery, P. F., Samuels, D. C., Lindsey, P., Smeets, H. J. M. (2018) Mutation-specific effects in germline transmission of pathogenic mtDNA variants Human Reproduction . 33 (7): 1331-1341 .
138 29980632 2018 Hirano, M., Emmanuele, V., Quinzii, C. M. (2018) Emerging therapies for mitochondrial diseases Essays in Biochemistry . 62 (3): 467-481 .
139 29983856 2018 Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Melnichenko, A. A., Postnov, A. Y., Orekhov, A. N., Sobenin, I. A. (2018) Cybrid models of pathological cell processes in different diseases Oxidative Medicine and Cellular Longevity . 2018 (): 4647214 .
140 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 .
141 30369864 2018 Chinnery, P. F., Gomez-Duran, A. (2018) Oldies but goldies mtDNA population variants and neurodegenerative diseases Frontiers in Neuroscience . 12 (): 682 .
142 30379275 2018 Lopes, T., Coelho, M., Bordalo, D., Bandeira, A., Bandeira, A., Vilarinho, L., Fonseca, P., Carvalho, S., Martins, C., Oliveira, J. G. (2018) Leigh Syndrome: a case report with a mitochondrial DNA mutation Revista Paulista de Pediatria . 36 (4): 519-523 .
143 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 .
144 30461153 2019 Kuleva, M., Ben Miled, S., Steffann, J., Bonnefont, J. P., Rondeau, S., Ville, Y., Munnich, A., Salomon, L. J. (2019) Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre BJOG . 126 (11): 1372-1379 .
145 30726454 2019 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 .
146 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 .
147 30768233 2019 Bandeira, A. O. (2019) Leigh Syndrome: a case report with a mitochondrial DNA mutation Revista Paulista de Pediatria . 37 (1): 136 .
148 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 .
149 31276579 2019 Su, X., Rak, M., Tetaud, E., Godard, F., Sardin, E., Bouhier, M., Gombeau, K., Caetano-Anolles, D., Salin, B., Chen, H., di Rago, J. P., Tribouillard-Tanvier, D. (2019) Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome Human Molecular Genetics . 28 (22): 3792-3804 .
150 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 .
151 31996241 2020 Schubert Baldo, M., Vilarinho, L. (2020) Molecular basis of Leigh syndrome: a current look Orphanet Journal of Rare Diseases . 15 (1): 31 .
152 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 .
153 32220313 2020 Russell, O. M., Gorman, G. S., Lightowlers, R. N., Turnbull, D. M. (2020) Mitochondrial diseases: hope for the future Cell . 181 (1): 168-188 .
154 32313153 2020 Riley, L. G., Cowley, M. J., Gayevskiy, V., Minoche, A. E., Puttick, C., Thorburn, D. R., Rius, R., Compton, A. G., Menezes, M. J., Bhattacharya, K., Coman, D., Ellaway, C., Alexander, I. E., Adams, L., Kava, M., Robinson, J., Sue, C. M., Balasubramaniam, S., Christodoulou, J. (2020) The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease Genetics in Medicine 22 (7): 1254-1261 .
155 NA 2021 Bakare, A. B., Daniel, J., Stabach, J., Rojas, A., Bell, A., Henry, B., Iyer, S. (2021) Quantifying mitochondrial dynamics in patient fibroblasts with multiple developmental defects and mitochondrial disorders International Journal of Molecular Sciences . 22 (12): 6263 .
156 33600551 2021 Su, X., Dautant, A., Rak, M., Godard, F., Ezkurdia, N., Bouhier, M., Bietenhader, M., Mueller, D. M., Kucharczyk, R., di Rago, J. P., Tribouillard-Tanvier, D. (2021) The pathogenic m.8993 T > G mutation in mitochondrial ATP6 gene prevents proton release from the subunit c-ring rotor of ATP synthase Human Molecular Genetics . 30 (5): 381-392 .
157 33717984 2021 Loos, M. A., Gomez, G., Mayorga, L., Caraballo, R. H., Eiroa, H. D., Obregon, M. G., Rugilo, C., Lubieniecki, F., Taratuto, A. L., Saccoliti, M., Alonso, C. N., Araoz, H. V. (2021) Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients Molecular Genetics and Metabolism Reports . 27 (): 100733 .
158 34080141 2021 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 .
159 34829316 2021 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 .