Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

Cited by (458)

Items 101–200 of 458

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   Salvatore DiMauro · 2010 · Journal of Inherited Metabolic Disease
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   Marije M. Löwik, Frans A. Hol, E. J. Steenbergen, Jack F.M. Wetzels, Lambertus P. van den Heuvel · 2004 · Nephrology Dialysis Transplantation
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4. [29] Platelet-mediated transformation of human mitochondrial DNA-less cells
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   Steve E. Durham, David C. Samuels, Lynsey M. Cree, Patrick Francis Chinnery · 2007 · The American Journal of Human Genetics
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7. Relationship of Genotype to Phenotype in Fibroblast-derived Transmitochondrial Cell Lines Carrying the 3243 Mutation Associated with the Melas Encephalomyopathy: Shift towards Mutant Genotype and Role of mtDNA Copy Number
   Herman Bentlage, Giuseppe M. Attardi · 1996 · Human Molecular Genetics
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   Lindsey Van Haute, Sarah F. Pearce, Christopher A. Powell, Aaron R. D’Souza, Thomas J. J. Nicholls, Michal A. Minczuk · 2015 · Journal of Inherited Metabolic Disease
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   Shigeo Ohta · 2006 · Oncogene
10. The Pathogenic A3243G Mutation in Human Mitochondrial tRNALeu(UUR) Decreases the Efficiency of Aminoacylation
    Hye Jeong Park, Edgar Davidson, Michael P. King · 2002 · Biochemistry
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    Gregory J. Tranah, Shana M. Katzman, Kevin Lauterjung, Kristine S. Yaffe, Todd Matthew Manini, Stephen B. Kritchevsky, Anne B. Newman, Tamara B. Harris, Steven Ron Cummings · 2018 · Scientific Reports
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    Robert F. Ogle, John Christodoulou, Elizabeth Fagan, Rozanne B. Blok, Denise M. Kirby, Kaye L. Seller, Hans‐Henrik M. Dahl, David Ross Thorburn · 1997 · The Journal of Pediatrics
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    Jun'ichiro Hayashi, Shigeo Ohta, Y Kagawa, Daiya Takai, Shigeaki Miyabayashi, K. Tada, H. Fukushima, Koji Inui, Seiji Okada, Y. Goto · 1994 · Journal of Biological Chemistry
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    Paul McMahan Matthews, R. M. Brown, Karl Morten, D. Marchington, Joanna Poulton, Garry K. Brown · 1995 · Human Genetics
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    Carlo Giuseppe Antozzi · 1997 · Cardiovascular Research
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    Atsuko Kasahara, Kaori Ishikawa, Makiko Yamaoka, Masahito Ito, Naoki Watanabe, Miho Akimoto, Akitsugu Sato, Kazuto Nakada, Hitoshi Endo, Yoko Suda et al. · 2006 · Human Molecular Genetics
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    Petra Kaufmann, Sara Shanske, Michio Hirano, Salvatore DiMauro, Michael P. King, Yasutoshi Koga, Eric A. Schon · 1996 · Annals of Neurology
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    Josef Müller‐Höcker, Daniela Ellen Aust, HELMUT ROHRBACH, Jörg Napiwotzki, Annette Reith, Th.A. Link, Peter Seibel, Dieter Hölzel, B Kadenbach · 1997 · Hepatology
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    Michael G. Hanna, Isabelle P. Nelson, Mary G. Sweeney, J Allen D Cooper, Peter Watkins, JOHN A. MORGAN-HUGHES, A. E. Harding · 1995 · Europe PMC (PubMed Central)
24. A Case of Mitochondrial Cytopathy with a Typical Point Mutation for MELAS, Presenting with Severe Focal-Segmental Glomerulosclerosis as MainClinical Manifesta tion
    Fumio Kurogouchi, Tomomasa Oguchi, Eiichirou Mawatari, Shuichi Yamaura, Kazuhiko Hora, Manabu Takei, Yoshiki Sekijima, Shu‐ichi Ikeda, Kendo Kiyosawa · 1998 · American Journal of Nephrology
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    Aye Naing, Manohar Kenchaiah, Binu Krishnan, Farheen Mir, Amanda Charnley, Catherine A. Egan, Gul Bano · 2014 · Journal of Diabetes and its Complications
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    Yasutoshi Koga · 2000 · Archives of Disease in Childhood
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    Giovanni Manfredi, Dominic E Thyagarajan, Lefkothea C. Papadopoulou, Francesco Pallotti, Eric A. Schon · 1997 · The American Journal of Human Genetics
28. The mitochondrial tRNALeu(UUR) mutation in MELAS: a model for pathogenesis
    Eric A. Schon, Yasutoshi Koga, Mercy M. Davidson, Carlos Torres Moraes, Michael P. King · 1992 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
29. Impairment of tRNA processing by point mutations in mitochondrial tRNA^Leu(UUR) associated with mitochondrial diseases
    Rossmanith, Walter, Karwan, Robert M. · 1998 · FEBS Letters
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    Dar‐Shong Lin, Yu-Wen Huang, Che‐Sheng Ho, Pi‐Lien Hung, Mei‐Hsin Hsu, Tuan-Jen Wang, Tsu‐Yen Wu, Tsung‐Han Lee, Zo-Darr Huang, Po-Chun Chang et al. · 2019 · Cells
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    Keiichi Izumikawa, Yuko Nobe, Harunori Yoshikawa, Hideaki Ishikawa, Yutaka Miura, Hiroshi Nakayama, Takashi Nonaka, Masato Hasegawa, Naohiro Egawa, Haruhisa Inoue et al. · 2017 · Scientific Reports
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    David S. Albers, Russell Howard Swerdlow, Giovanni Manfredi, Carl D. Gajewski, Lichuan Yang, William Davis Parker, M. Flint Beal · 2001 · Experimental Neurology
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    Carl D. Gajewski, Lichuan Yang, Eric A. Schon, Giovanni Manfredi · 2003 · Molecular Biology of the Cell
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    Yasutoshi Koga, Nataliya Povalko, Junko Nishioka, Koujyu Katayama, Shuichi Yatsuga, Toyojiro Matsuishi · 2011 · Biochimica et Biophysica Acta (BBA) - General Subjects
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    Yu Ding, Jianhang Leng, Fan Fan, Bohou Xia, Pan Xu · 2013 · Biochemical Genetics
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    Fernando Scaglia, Lee‐Jun C. Wong · 2007 · Muscle & Nerve
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    Kohji Mabuchi, Masaki U. Miya, Takashi Satoh, Mark W. Westneat, Mutsumi Nishida · 2004 · Journal of Molecular Evolution
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    Matthew McKenzie, Danae Liolitsa, Natalya Akinshina, Michelangelo Campanella, Sanjay M. Sisodiya, I. Hargreaves, Niranjanan Nirmalananthan, Mary G. Sweeney, Patrick M. Abou‐Sleiman, Nicholas William Wood et al. · 2007 · Journal of Biological Chemistry
40. A mitochondrial DNA tRNA Val point mutation associated with adult-onset Leigh syndrome
    R. M. Chalmers, Phillipa J. Lamont, Isabelle P. Nelson, David W. Ellison, Neil H. Thomas, A. E. Harding, Simon R. Hammans · 1997 · Neurology
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    Pedro Figueiredo, Scott K. Powers, Rita M. Ferreira, Francisco Manuel Lemos Amado, Hans-Joachim Appell, José Alberto Duarte · 2009 · The Journals of Gerontology Series A
42. Auditory Findings in Patients with Maternally Inherited Diabetes and Deafness Harboring a Point Mutation in the Mitochondrial Transfer RNALeu (UUR) Gene
    Tatsuya Yamasoba, Yoshitomo Oka, Katsunori Tsukuda, Masaichi Nakamura, Kimitaka Kaga · 1996 · The Laryngoscope
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    Kimiko Inoue, Sayaka Ito, Daisaku Takai, Aki Soejima, Hayase Shisa, Jean‐Bernard Le Pecq, Evelyne Segal-Bendirdjian, Yasuo Kagawa, Jun‐Ichi Hayashi · 1997 · Journal of Biological Chemistry
44. Genotypic Stability, Segregation and Selection in Heteroplasmic Human Cell Lines Containing np 3243 Mutant mtDNA
    Sanna K. Lehtinen, Nicole Hance, Abdellatif El Meziane, M Katariina Juhola, Katariina Juhola, Ritva Karhu, Johannes N. Spelbrink, Ian James Holt, Howard Trevor Jacobs · 2000 · Genetics
45. A Novel Mutation in the Mitochondrial 16S rRNA Gene in a Patient with MELAS Syndrome, Diabetes Mellitus, Hyperthyroidism and Cardiomyopathy
    Rong‐Hong Hsieh, Jei-Yuan Li, Cheng‐Yoong Pang, Yau‐Huei Wei · 2001 · Journal of Biomedical Science
46. Pathology-related substitutions in human mitochondrial tRNAIle reduce precursor 3' end processing efficiency in vitro
    Louis Levinger · 2003 · Nucleic Acids Research
47. Mitochondrial DNA diseases: Histological and cellular studies
    Eric A. Shoubridge · 1994 · Journal of Bioenergetics and Biomembranes
48. Treatment of Mitochondrial Disease
    Robert William Taylor, Patrick Francis Chinnery, Kim M. Clark, Robert Neil Lightowlers, Douglass M. Turnbull · 1997 · Journal of Bioenergetics and Biomembranes
49. A Pathogenesis-associated Mutation in Human Mitochondrial tRNALeu(UUR) Leads to Reduced 3′-End Processing and CCA Addition
    Louis Levinger, Isabel Oestreich, Catherine Florentz, Mario Mörl · 2004 · Journal of Molecular Biology
50. Production of transmitochondrial mouse cell lines by cybrid rescue of rhodamine-6G pre-treated L-cells
    Ian Andrew Trounce, Douglas C. Wallace · 1996 · Somatic Cell and Molecular Genetics
51. Complete Repopulation of Mouse Mitochondrial DNA-less Cells With Rat Mitochondrial DNA Restores Mitochondrial Translation but Not Mitochondrial Respiratory Function
    Makiko Yamaoka, Kotoyo Isobe, Hiroshi Shitara, Hiromichi Yonekawa, Shigeaki Miyabayashi, Jun‐Ichi Hayashi · 2000 · Genetics
52. Mitochondrial disorders and the eye
    Eli Kisilevsky, Paul R. Freund, Edward Margolin · 2019 · Survey of Ophthalmology
53. Impaired mitochondrial function in idiopathic dilated cardiomyopathy: Biochemical and molecular analysis
    José Marı́n-Garcı́a, Michael J. Goldenthal, Mary Ella Pierpont, Radha Ananthakrishnan · 1995 · Journal of Cardiac Failure
54. Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: Developing the first mouse model of mitochondrial DNA disease
    David R. Marchington, David H. Barlow, Joanna Poulton · 1999 · Nature Medicine
55. Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene
    Françoise Degoul · 1998 · Human Molecular Genetics
56. Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS
    Mahsa Mehrazin, Sara Shanske, Petra Kaufmann, Ying Wei, Jorida Çoku, Kristin Engelstad, Ali Naini, Darryl C. De Vivo, Salvatore DiMauro · 2009 · American Journal of Medical Genetics Part A
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    Huiling Hao, Carlos Torres Moraes · 1997 · Molecular and Cellular Biology
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    J. M. W. van den Ouweland, H.H.P.J. Lemkes, Klaus-Dieter Gerbitz, J. Antonie Maassen · 1995 · Muscle & Nerve
59. In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNASer(UCN) precursor with the U7445C substitution, which causes non-syndromic deafness
    Levinger, L. · 2001 · Nucleic Acids Research
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    Kotoyo Isobe, Sayaka Ito, Hideka Hosaka, Yukio Iwamura, Hiroshi Kondo, Yasuo Kagawa, Jun‐Ichi Hayashi · 1998 · Journal of Biological Chemistry
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    Timothy C. Kenny, Maria Gomez-Jenkins, Doris Germain · 2019 · Cancer Research
62. Protein synthesis in mitochondria
    Herman J. Pel, Leslie A. Grivell · 1994 · Molecular Biology Reports
63. Mitochondrial diseases in adults
    Chiara La Morgia, Alessandra Maresca, Leonardo Caporali, Maria Lucia Valentino, Valério Carelli · 2020 · Journal of Internal Medicine
64. Functional and Molecular Mitochondrial Abnormalities Associated with a C → T Transition at Position 3256 of the Human Mitochondrial Genome
    Huiling Hao, Carlos Torres Moraes · 1996 · Journal of Biological Chemistry
65. Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNA^Leu(UUR) gene
    Park, Hyejeong, Davidson, Edgar, King, Michael P. · 2008 · RNA
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    Hrvoje Lusic, Estella M. Gustilo, Franck A. P. Vendeix, Rob Kaiser, Michael O. Delaney, William D. Graham, Virginia A. Moye, William A. Cantara, Paul F. Agris, Alexander Deiters · 2008 · Nucleic Acids Research
67. Functional defects of pathogenic human mitochondrial tRNAs related to structural fragility.
    Shana O. Kelley, PAUL R. SCHIMMEL, Sergey V. Steinberg · 2000 · Nature Structural Biology
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    Jan‐Willem Taanman, Miriam D. Burton, Michael F. Marusich, Nancy G. Kennaway, Roderick Capaldi · 1996 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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    John Aaron Goodfellow, Krishna Dani, William B. Stewart Jr., Celestine Santosh, John McLean, Sharon Mulhern, Saif Razvi · 2012 · Postgraduate Medical Journal
70. [44]Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR
    Carlos Torres Moraes, Eric A. Schon · 1996 · Methods in enzymology on CD-ROM/Methods in enzymology
71. Mitochondrial Nuclear Retrograde Regulator 1 (MNRR1) rescues the cellular phenotype of MELAS by inducing homeostatic mechanisms
    Siddhesh Aras, Neeraja Purandare, Stephanie Gladyck, Mallika Somayajulu‐Nitu, Kezhong Zhang, Douglas C. Wallace, Lawrence I. Grossman · 2020 · Proceedings of the National Academy of Sciences
72. Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene
    Yasutoshi Koga, Mercy M. Davidson, Eric A. Schon, Michael P. King · 1995 · Muscle & Nerve
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    Florin Sasarman, Eric A. Shoubridge · 2011 · Methods in molecular biology
74. Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)
    Makoto Tokunaga, Shuji Mita, T. Murakami, Toshihide Kumamoto, Makoto Uchino, Ikuya Nonaka, Masayuki Ando · 1994 · Annals of Neurology
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    Makoto Tokunaga, Shuji Mita, Ryoichi Sakuta, Ikuya Nonaka, Shukuro Araki · 1993 · Annals of Neurology
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    Fiona M. Reid, Anja T. Rovio, Ian James Holt, Howard Trevor Jacobs · 1997 · Human Molecular Genetics
77. Human mitochondrial transcription termination exhibits RNA polymerase independence and biased bipolarity in vitro.
    Jiyong Shang, David A. Clayton · 1994 · Journal of Biological Chemistry
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    José Marı́n-Garcı́a, Michael J. Goldenthal · 1997 · Pediatric Cardiology
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    Valérie Desquiret‐Dumas, Naïg Guéguen, Magalie Barth, Arnaud Chevrollier, Saege A. Hancock, Douglas C. Wallace, Patrizia Amati‐Bonneau, Daniel Henrion, Dominique Bonneau, Pascal Reynier et al. · 2012 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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    Elena Perli, Carla Giordano, Annalinda Pisano, Arianna Montanari, Antonio Francesco Campese, Aurelio Reyes, Daniele Ghezzi, Alessia Nasca, Helen A. L. Tuppen, Maurizia Orlandi et al. · 2014 · EMBO Molecular Medicine
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    Kristen C. Hoffbuhr, Edgar Davidson, Beth Filiano, Mercy M. Davidson, Nancy G. Kennaway, Michael P. King · 2000 · Journal of Biological Chemistry
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    Russell Howard Swerdlow · 2002 · Archives of Pathology & Laboratory Medicine
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    Julio Montoya, Manuel José López-Pérez, Eduardo Ruiz‐Pesini · 2006 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
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    Salvatore DiMauro · 1996 · Journal of Inherited Metabolic Disease
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    Wataru Sato, Masashi Tanaka, Satoru Sugiyama, Taisuke Nemoto, Kenji Harada, Yasunori Miura, Yasuko Kobayashi, Atsuko Goto, Goro Takada, Takayuki Ozawa · 1994 · American Heart Journal
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    Marco Sparaco, Alessandro Simonati, Tiziana Cavallaro, Luigi Bartolomei, Marta Grauso, Francesco Piscioli, L. Morelli, N. Rizzuto · 2003 · Acta Neuropathologica
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    Sharon Nugent, Carmel E Mothersill, Colin B Seymour, Brendan McClean, Fiona M. Lyng, James E. J. Murphy · 2010 · International Journal of Radiation Biology
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    Massoud Houshmand, Nils‐Göran Larsson, Elisabeth Holme, Anders Oldfors, M. Tulinius, Oluf Andersen · 1994 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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    Danielson, Steven R., Carelli, Valerio, Tan, Guolin, Martinuzzi, Andrea, Schapira, Anthony H. V., Savontaus, Marja-Liisa, Cortopassi, Gino A. · 2005 · Brain
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    Mutsumi Yokota, Hideyuki Hatakeyama, Saki Okabe, Yasuha Ono, Yu‐ichi Goto · 2015 · Human Molecular Genetics
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    Gianluca Caridi, Antonella Trivelli, Simone Sanna‐Cherchi, Francesco Perfumo, Gian Marco Ghiggeri · 2008 · Pediatric Nephrology
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    Herman Bentlage, I.F.M. de Coo, Henk Ter Laak, Rob C.A. Sengers, Frans J.M. Trijbels, W. Ruitenbeek, W. Schlote, Kathy Pfeiffer, Simonida Gencic, Gebhard von JAGOW et al. · 1995 · European Journal of Biochemistry
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    Harri Rusanen, Kari Majamaa, Ilmo E. Hassinen · 2000 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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    Róisín M. Boggan, Albert Zishen Lim, Robert William Taylor, Robert McFarland, Sarah J. Pickett · 2019 · Molecular Genetics and Metabolism
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    JOHN A. MORGAN-HUGHES, Michael G. Hanna · 1999 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
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    Ling, Jiqiang, Roy, Hervé, Qin, Daoming, Rubio, Mary Anne T., Alfonzo, Juan D., Fredrick, Kurt, Ibba, Michael · 2007 · Proceedings of the National Academy of Sciences
97. Enhanced oxidative damage in human cells harboring A3243G mutation of mitochondrial DNA: implication of oxidative stress in the pathogenesis of mitochondrial diabetes
    Cheng‐Yoong Pang, Hsin‐Chen Lee, Yau‐Huei Wei · 2001 · Diabetes Research and Clinical Practice
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    Pascal Laforêt, Anne Lombès, B. Eymard, Claude Danan, Martine Chevallay, Andrée Rouche, Paule Frachon, Michel Fardeau · 1995 · Neuromuscular Disorders
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    DONALD S. RUBENSTEIN, David C. Thomasma, Eric A. Schon, Michael J. Zinaman · 1995 · Cambridge Quarterly of Healthcare Ethics
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     Kazuto Nakada, Akitsugu Sato, Hideyuki Sone, Atsuko Kasahara, Katsuhisa Ikeda, Yasuo Kagawa, Hiromichi Yonekawa, Jun‐Ichi Hayashi · 2004 · Biochemical and Biophysical Research Communications