The Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episode Syndrome-associated Human Mitochondrial tRNALeu(UUR) Mutation Causes Aminoacylation Deficiency and Concomitant Reduced Association of mRNA with Ribosomes

[57] Sequencing end-labeled DNA with base-specific chemical cleavages

Maxam, A. M., & Gilbert, W. (1980) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(80)65059-9 · Cited by 13,943

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

(1984) · Analytical Biochemistry · doi:10.1016/0003-2697(84)90381-6 · Cited by 4,952

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

Goto, Y.-I., Nonaka, I., & Horai, S. (1990) · Nature · doi:10.1038/348651a0 · Cited by 2,070

Human Cells Lacking mtDNA: Repopulation with Exogenous Mitochondria by Complementation

King, M. P., & Attardi, G. M. (1989) · Science · doi:10.1126/science.2814477 · Cited by 1,685

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation

Shoffner, J. M., Lott, M. T., Lezza, A. M. S., Seibel, P., Ballinger, S. W., & Wallace, D. C. (1990) · Cell · doi:10.1016/0092-8674(90)90059-n · Cited by 1,476

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

(1990) · Trends in Genetics · doi:10.1016/0168-9525(90)90040-d · Cited by 1,386

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

van den Ouweland, J. M. W., Lemkes, H. H. P. J., Ruitenbeek, W., Sandkuijl, L. A., de Vijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P., & Maassen, J. A. (1992) · Nature Genetics · doi:10.1038/ng0892-368 · Cited by 1,135

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D. R., Lai, S. T., Nonaka, I., Angelini, C. I., & Attardi, G. M. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.10.4221 · Cited by 491

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

King, M. P., Koga, Y., Davidson, M., & Schon, E. A. (1992) · Molecular and Cellular Biology · doi:10.1128/mcb.12.2.480 · Cited by 458

Mitochondrial DNA Mutations and Pathogenesis

Schon, E. A., Bonilla, E., & DiMauro, S. (1997) · Journal of Bioenergetics and Biomembranes · doi:10.1023/a:1022685929755 · Cited by 421

Mitochondrial threshold effects

Rossignol, R., Faustin, B., Rocher, C., Malgat, M., Mazat, J., & Letellier, T. (2003) · Biochemical Journal · doi:10.1042/bj20021594 · Cited by 816

The genetics and pathology of oxidative phosphorylation

Smeitink, J. A. M., van den Heuvel, L., & DiMauro, S. (2001) · Nature Reviews Genetics · doi:10.1038/35072063 · Cited by 733

Mitochondrial DNA mutations and human disease

Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

El‐Hattab, A. W., Adesina, A. M., Jones, J. Y., & Scaglia, F. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.06.004 · Cited by 635

Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases

Suzuki, T., Nagao, A., & Suzuki, T. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132531 · Cited by 554

Emerging roles of tRNA in adaptive translation, signalling dynamics and disease

Kirchner, S., & Ignatova, Z. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3861 · Cited by 545

Mitochondrial Diabetes

Maassen, J. A., ‘t Hart, L. M., van Essen, E., Heine, R. J., Nijpels, G., Jahangir Tafrechi, R. S., Raap, A. K., Janssen, G. M. C., & Lemkes, H. H. P. J. (2004) · Diabetes · doi:10.2337/diabetes.53.2007.s103 · Cited by 439

Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease

Kirino, Y., Yasukawa, T., Ohta, S., Akira, S., Ishihara, K., Watanabe, K., & Suzuki, T. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0405173101 · Cited by 288

Human mitochondrial tRNAs in health and disease

Florentz, C., Sohm, B., Tóth, P., P�tz, J., & Sissler, M. (2003) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-003-2343-1 · Cited by 249

Mitochondrial diseases: from molecular mechanisms to therapeutic advances

Wen, H., Deng, H., Li, B., Chen, J., Zhu, J., Zhang, X., Yoshida, S., & Zhou, Y. (2025) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-02044-3 · Cited by 284

Mitochondrial Disease—Its Impact, Etiology, and Pathology

McFarland, R., Taylor, R. W., & Turnbull, D. M. (2007) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(06)77005-3 · Cited by 192

Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease

Kirino, Y., Goto, Y., Campos, Y., Arenas, J., & Suzuki, T. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0500563102 · Cited by 168

The MTERF family proteins: Mitochondrial transcription regulators and beyond

Roberti, M., Polosa, P. L., Bruni, F., Manzari, C., Deceglie, S., Gadaleta, M. N., & Cantatore, P. (2009) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.01.013 · Cited by 166

Mitochondrial tRNA 3' end metabolism and human disease

Levinger, L. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh884 · Cited by 152

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2

Sasarman, F., Antonická, H., & Shoubridge, E. A. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn265 · Cited by 153

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement

Betts, J., Jaros, E., Perry, R. H., Schaefer, A. M., Taylor, R. W., Abdel‐All, Z., Lightowlers, R. N., & Turnbull, D. M. (2006) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2006.00731.x · Cited by 142

Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA Leu(UUR) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes

Li, R., & Guan, M. (2010) · Molecular and Cellular Biology · doi:10.1128/mcb.01614-09 · Cited by 131

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

Jacobs, H. T., Hutchin, T. P., Käppi, T., Gillies, G., Minkkinen, K., Walker, J., Thompson, K., Rovio, A. T., Carella, M., Melchionda, S., et al. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201250 · Cited by 128

Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness

Li, X. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh226 · Cited by 126

Mitochondrial DNA: Impacting Central and Peripheral Nervous Systems

Carelli, V., & Chan, D. C. (2014) · Neuron · doi:10.1016/j.neuron.2014.11.022 · Cited by 134

Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation

Finsterer, J. (2007) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.2007.00836.x · Cited by 125

A deafness-associated tRNAHismutation alters the mitochondrial function, ROS production and membrane potential

Gong, S., Peng, Y., Jiang, P., Wang, M., Fan, M., Wang, X., Zhou, H., Li, H., Yan, Q., Huang, T., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku466 · Cited by 117

A functionally dominant mitochondrial DNA mutation

Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn073 · Cited by 113

Pathogenesis of Stroke-Like Episodes in MELAS: Analysis of Neurovascular Cellular Mechanisms

Iizuka, T., & Sakai, F. (2005) · Current Neurovascular Research · doi:10.2174/1567202052773544 · Cited by 113

Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs

Suzuki, T., Nagao, A., & Suzuki, T. (2011) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.65 · Cited by 112

The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation

Jiang, P., Jin, X., Peng, Y., Wang, M., Liu, H., Liu, X., Zhang, Z., Ji, Y., Zhang, J., Liang, M., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv498 · Cited by 106

Impact of disease-related mitochondrial mutations on tRNA structure and function

Wittenhagen, L. M. (2003) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2003.09.006 · Cited by 102

A compendium of human mitochondrial gene expression machinery with links to disease

Shutt, T. E., & Shadel, G. S. (2010) · Environmental and Molecular Mutagenesis · doi:10.1002/em.20571 · Cited by 100

Estrogen and Mitochondria: A New Paradigm for Vascular Protection?

DUCKLES, S. P. (2006) · Molecular Interventions · doi:10.1124/mi.6.1.6 · Cited by 95

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon based real-time fluorescence PCR

Szuhai, K. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.3.e13 · Cited by 93

Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria

Karicheva, O., Kolesnikova, O., Schirtz, T., Vysokikh, M., Mager-Heckel, A., Lombès, A., Boucheham, A., Krasheninnikov, I., Martin, R., Entelis, N., et al. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr546 · Cited by 86

Mitochondrial Gene Mutations in the tRNALeu(UUR) Region and Diabetes: Prevalence and Clinical Phenotypes in Japan

Ohkubo, K., Yamano, A., Nagashima, M., Mori, Y., Anzai, K., Akehi, Y., Nomiyama, R., Asano, T., Urae, A., & Ono, J. (2001) · Clinical Chemistry · doi:10.1093/clinchem/47.9.1641 · Cited by 92

Towards Understanding Human Mitochondrial Leucine Aminoacylation Identity

Sohm, B., Frugier, M., Brulé, H., Olszak, K., Przykorska, A., & Florentz, C. (2003) · Journal of Molecular Biology · doi:10.1016/s0022-2836(03)00373-5 · Cited by 92

Disorders of mitochondrial protein synthesis

Jacobs, H. T. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg285 · Cited by 91

Dimerization of a pathogenic human mitochondrial tRNA

Wittenhagen, L. M., & Kelley, S. O. (2002) · Nature Structural Biology · doi:10.1038/nsb820 · Cited by 92

A history of mitochondrial diseases

DiMauro, S. (2010) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-010-9082-x · Cited by 90

Mitochondrial Retinal Dystrophy Associated with the m.3243A>G Mutation

de Laat, P., Smeitink, J. A. M., Janssen, M. C. H., KEUNEN, J. E. E., & Boon, C. J. F. (2013) · Ophthalmology · doi:10.1016/j.ophtha.2013.05.013 · Cited by 87

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

El‐Hattab, A. W., Emrick, L., Hsu, J. W.-C., Chanprasert, S., Almannai, M., Craigen, W. J., Jahoor, F., & Scaglia, F. (2016) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2016.01.010 · Cited by 87

MTERF2 is a nucleoid component in mammalian mitochondria

Pellegrini, M., Asin-Cayuela, J., Erdjument‐Bromage, H., Tempst, P., Larsson, N., & Gustafsson, C. M. (2009) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.01.018 · Cited by 82

A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction

Wang, M., Liu, H., Zheng, J., Chen, B., Zhou, M., Fan, W., Wang, H., Liang, X., Zhou, X.-L., Eriani, G., et al. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.739482 · Cited by 79

The Pathogenic A3243G Mutation in Human Mitochondrial tRNALeu(UUR) Decreases the Efficiency of Aminoacylation

Park, H. J., Davidson, E., & King, M. P. (2002) · Biochemistry · doi:10.1021/bi026882r · Cited by 79

Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease

Lin, D., Huang, Y.-W., Ho, C., Hung, P., Hsu, M., Wang, T.-J., Wu, T., Lee, T., Huang, Z.-D., Chang, P.-C., et al. (2019) · Cells · doi:10.3390/cells8010065 · Cited by 74

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease

Powell, C. A., Nicholls, T. J. J., & Minczuk, M. A. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00079 · Cited by 71

Molecular pathology of MELAS and l-arginine effects

Koga, Y., Povalko, N., Nishioka, J., Katayama, K., Yatsuga, S., & Matsuishi, T. (2011) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2011.09.005 · Cited by 71

The Role of Mitochondrial DNA Mutations in Hearing Loss

Ding, Y., Leng, J., Fan, F., Xia, B., & Xu, P. (2013) · Biochemical Genetics · doi:10.1007/s10528-013-9589-6 · Cited by 71

Role of taurine in the pathologies of MELAS and MERRF

Schaffer, S. W., Jong, C. J., Ito, T., & Azuma, J. (2012) · Amino Acids · doi:10.1007/s00726-012-1414-8 · Cited by 69

Mitochondrial tRNA mutations associated with deafness

Zheng, J., Ji, Y., & Guan, M. (2012) · Mitochondrion · doi:10.1016/j.mito.2012.04.001 · Cited by 66

A Pathogenesis-associated Mutation in Human Mitochondrial tRNALeu(UUR) Leads to Reduced 3′-End Processing and CCA Addition

Levinger, L., Oestreich, I., Florentz, C., & Mörl, M. (2004) · Journal of Molecular Biology · doi:10.1016/j.jmb.2004.02.008 · Cited by 65

Mitochondrial diabetes: Pathophysiology, clinical presentation, and genetic analysis

Maassen, J. A. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10346 · Cited by 64

A Member of the Arabidopsis Mitochondrial Transcription Termination Factor Family Is Required for Maturation of Chloroplast Transfer RNAIle(GAU)

Romani, I., Manavski, N., Morosetti, A., Tadini, L., Maier, S., Kühn, K., Ruwe, H., Schmitz‐Linneweber, C., Wanner, G., Leister, D., et al. (2015) · PLANT PHYSIOLOGY · doi:10.1104/pp.15.00964 · Cited by 63

Mitochondria in migraine pathophysiology – does epigenetics play a role?

Fila, M., Pawłowska, E., & Błasiak, J. (2019) · Archives of Medical Science · doi:10.5114/aoms.2019.86061 · Cited by 62

Coronary heart disease is associated with a mutation in mitochondrial tRNA

Jia, Z., Wang, X., Qin, Y., Xue, L., Jiang, P., Meng, Y., Shi, S., Wang, Y., Mo, J. Q., & Guan, M. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt256 · Cited by 61

Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations

Moreno‐Loshuertos, R., Ferrín, G., Acín‐Pérez, R., Gallardo, M. E., Viscomi, C. F., Martos, A. P., Zeviani, M., Fernández‐Silva, P., & Enrı́quez, J. A. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001379 · Cited by 60

Mitochondrial transcription: Lessons from mouse models

Peralta, S., Wang, X., & Moraes, C. T. (2011) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2011.11.001 · Cited by 60

A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndrome

Nishigaki, Y., Tadesse, S., Bonilla, E., Shungu, D. C., Hersh, S. P., Keats, B. J. B., Berlín, C. I., Goldberg, M. F., Vockley, J. E., DiMauro, S., et al. (2003) · Neuromuscular Disorders · doi:10.1016/s0960-8966(02)00283-3 · Cited by 60

Impaired mitochondrial Ca2+ homeostasis in respiratory chain-deficient cells but efficient compensation of energetic disadvantage by enhanced anaerobic glycolysis due to low ATP steady state levels

VONKLEISTRETZOW, J., Hornig‐Do, H., Schauen, M., Eckertz, S., DINH, T., STASSEN, F., Lottmann, N., Bust, M., Galunska, B. T., & Wielckens, K. (2007) · Experimental Cell Research · doi:10.1016/j.yexcr.2007.04.015 · Cited by 59

Mitochondrial diseases in adults

Morgia, C. L., Maresca, A., Caporali, L., Valentino, M. L., & Carelli, V. (2020) · Journal of Internal Medicine · doi:10.1111/joim.13064 · Cited by 61

Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNALeu(UUR) gene

Park, H., Davidson, E., & King, M. P. (2008) · RNA · doi:10.1261/rna.1208808 · Cited by 58

Disease‐related versus polymorphic mutations in human mitochondrial tRNAs

Florentz, C., & Sissler, M. (2001) · EMBO Reports · doi:10.1093/embo-reports/kve111 · Cited by 58

Arginine and Citrulline for the Treatment of MELAS Syndrome

El‐Hattab, A. W., Almannai, M., & Scaglia, F. (2017) · Journal of Inborn Errors of Metabolism and Screening · doi:10.1177/2326409817697399 · Cited by 60

ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications

Homaei, S. C., Halleland, H. B., Kleppe, R., Betari, N., Reif, A., & Haavik, J. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.11.012 · Cited by 58

Mitochondrial DNA Haplogroups Do Not Play a Role in the Variable Phenotypic Presentation of the A3243G Mutation

Torroni, A., Campos, Y., Rengo, C., Sellitto, D., Achilli, A., Magri, C., Semino, O., García‐Redondo, A., Jara, P., Arenas, J., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/373936 · Cited by 57

Aminoacylation properties of pathology-related human mitochondrial tRNALysvariants

Sissler, M., Helm, M., Frugier, M., Giegé, R., & Florentz, C. (2004) · RNA · doi:10.1261/rna.5267604 · Cited by 56

Comparative proteomics as a new tool for exploring human mitochondrial tRNA disorders

Rabilloud, T., Strub, J.-M., Carte, N., Luche, S., Van Dorsselaer, A., Lunardi, J., Giegé, R., & Florentz, C. (2002) · Biochemistry · doi:10.1021/bi0114776 · Cited by 55

Critical role of AMP-activated protein kinase in the balance between mitophagy and mitochondrial biogenesis in MELAS disease

Garrido‐Maraver, J., Paz, M. V., Cordero, M. D., Lorite, J. B., Oropesa-Ávila, M., de la Mata, M., Pavón, A. D., de Lavera, I., Alcocer‐Gómez, E., Galán, F., et al. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2015.08.027 · Cited by 58

The 7472insC Mitochondrial DNA Mutation Impairs the Synthesis and Extent of Aminoacylation of tRNASer(UCN) but Not Its Structure or Rate of Turnover

Toompuu, M., Yasukawa, T., Suzuki, T., Hakkinen, T., Spelbrink, J. N., Watanabe, K., & Jacobs, H. T. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m200338200 · Cited by 52

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS

Desquiret‐Dumas, V., Guéguen, N., Barth, M., Chevrollier, A., Hancock, S. A., Wallace, D. C., Amati‐Bonneau, P., Henrion, D., Bonneau, D., Reynier, P., et al. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.01.010 · Cited by 51

MELAS: clinical phenotype and morphological brain abnormalities

Sparaco, M., Simonati, A., Cavallaro, T., Bartolomei, L., Grauso, M., Piscioli, F., Morelli, L., & Rizzuto, N. (2003) · Acta Neuropathologica · doi:10.1007/s00401-003-0716-z · Cited by 49

In Vivo and In Organello Analyses of Mitochondrial Translation

Fernández‐Silva, P., Acín‐Pérez, R., Fernández‐Vizarra, E., Martos, A. P., & Enrı́quez, J. A. (2007) · Methods in cell biology · doi:10.1016/s0091-679x(06)80028-2 · Cited by 48

Sequence analysis of the complete mitochondrial DNA in 10 commonly used inbred rat strains

Schlick, N., Jensen‐Seaman, M. I., Orlebeke, K., Kwitek, A. E., Jacob, H. J., & Lazar, J. (2006) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00234.2006 · Cited by 46

Resolving complexity in mitochondrial disease: Towards precision medicine

Boggan, R. M., Lim, A. Z., Taylor, R. W., McFarland, R., & Pickett, S. J. (2019) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2019.09.003 · Cited by 46

Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene

Yan, X., Wang, X., Wang, Z., Sun, S., Chen, G., He, Y., Mo, J. Q., Li, R., Jiang, P., Lin, Q., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100219 · Cited by 45

A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation

Meng, F., Zhou, M., Xiao, Y., Mao, X., Zheng, J., Lin, J., Lin, T., Ye, Z., Cang, X., Fu, Y., et al. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa1225 · Cited by 44

Reversible infantile respiratory chain deficiency: A clinical and molecular study

Mimaki, M., Hatakeyama, H., Komaki, H., Yokoyama, M., Arai, H., Kirino, Y., Suzuki, T., Nishino, I., Nonaka, I., & Goto, Y. (2010) · Annals of Neurology · doi:10.1002/ana.22111 · Cited by 44

Contribution of the tRNAIle 4317A→G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A→G mutation

Meng, F., He, Z., Tang, X., Zheng, J., Jin, X., Zhu, Y., Ren, X., Zhou, M., Wang, M., Gong, S., et al. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra117.000530 · Cited by 43

Mitochondrial tRNA mutations associated with deafness

Jing, Z., Ji, Y., & Guan, M. (2012) · Journal of Otology · doi:10.1016/s1672-2930(12)50009-7 · Cited by 43

A deafness-associated tRNAAspmutation alters the m1G37 modification, aminoacylation and stability of tRNAAspand mitochondrial function

Wang, M., Peng, Y., Zheng, J., Zheng, B., Jin, X., Liu, H., Wang, Y., Tang, X., Huang, T., Jiang, P., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw726 · Cited by 42

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

Anitori, R. P., Manning, K., Quan, F., Weleber, R. G., Buist, N. R. M., Shoubridge, E. A., & Kennaway, N. G. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.10.003 · Cited by 41

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome

Chakrabarty, S., Govindaraj, P., Sankaran, B. P., Nagappa, M., Kabekkodu, S. P., Jayaram, P., Mallya, S. P., Deepha, S., Ponmalar, J. N. J., Arivinda, H. R., et al. (2021) · Journal of Neurology · doi:10.1007/s00415-020-10390-9 · Cited by 40

Gene expression profiling of skeletal muscle in exercise-trained and sedentary rats with inborn high and low VO2max

Bye, A., Høydal, M. A., Catalucci, D., Langaas, M., Kemi, O. J., Beisvåg, V., Koch, L. G., Britton, S. L., Ellingsen, Ø., & Wisløff, U. (2008) · Physiological Genomics · doi:10.1152/physiolgenomics.90282.2008 · Cited by 38

Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample

Lorenc, A., Bryk, J., Golik, P., Kupryjańczyk, J., Ostrowski, J., Pronicki, M., Semczuk, A., Szołkowska, M., & Bartnik, E. (2003) · Mitochondrion · doi:10.1016/s1567-7249(03)00106-5 · Cited by 36

Clinical syndromes associated with mtDNA mutations: where we stand after 30 years

Carelli, V., & Morgia, C. L. (2018) · Essays in Biochemistry · doi:10.1042/ebc20170097 · Cited by 34

Historical perspective on mitochondrial medicine

DiMauro, S., & Garone, C. (2010) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.102 · Cited by 37

New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

Pierron, D., Rocher, C., Amati-Bonneau, P., Reynier, P., Martin‐Négrier, M., Allouche, S., Batandier, C., de Camaret, B. M., Godinot, C., Rötig, A., et al. (2008) · BMC Medical Genetics · doi:10.1186/1471-2350-9-41 · Cited by 34

Structural probing of a pathogenic tRNA dimer

ROY, M. D., WITTENHAGEN, L. M., & KELLEY, S. O. (2005) · RNA · doi:10.1261/rna.7143305 · Cited by 31

Mutation in the mitochondrial tRNAVal causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes

Glatz, C. E., D׳Aco, K., Smith, S. A., & Sondheimer, N. (2011) · Mitochondrion · doi:10.1016/j.mito.2011.04.003 · Cited by 33

Human mitochondrial tRNA quality control in health and disease

Belostotsky, R., Frishberg, Y., & Entelis, N. (2012) · RNA Biology · doi:10.4161/rna.9.1.18009 · Cited by 34

Molecular Investigations on tRNAs Involved in Human Mitochondrial Disorders

Florentz, C. (2002) · Bioscience Reports · doi:10.1023/a:1016065107165 · Cited by 32

A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR)

Zhou, M., Wang, M., Xue, L., Lin, Z., He, Q., Shi, W., Chen, Y., Jin, X., Li, H., Jiang, P., et al. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.787028 · Cited by 31

Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNAGly gene

Liu, H., Li, R., Li, W., Wang, M., Ji, J., Zheng, J., Mao, Z., Mo, J. Q., Jiang, P., Lü, J., et al. (2015) · Mitochondrion · doi:10.1016/j.mito.2015.01.004 · Cited by 31

Muscle 3243A→G mutation load and capacity of the mitochondrial energy‐generating system

Janssen, A. J. M., Schuelke, M., Smeitink, J. A. M., Trijbels, F. J. M., Sengers, R. C. A., Lucke, B., Wintjes, L. T., Morava, É., van Engelen, B. G. M., Smits, B. W., et al. (2008) · Annals of Neurology · doi:10.1002/ana.21328 · Cited by 32

Proteomic consequences of a human mitochondrial tRNA mutation beyond the frame of mitochondrial translation

Tryoen-Tóth, P., Richert, S., Sohm, B., Mine, M., Marsac, C., Van Dorsselaer, A., Leize, E., & Florentz, C. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m301530200 · Cited by 31

A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations

Mollers, M. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki876 · Cited by 31

Inflexibility of AMPK-mediated metabolic reprogramming in mitochondrial disease

Lin, D., Kao, S., Ho, C. S., Wei, Y., Hung, P., Hsu, M., Wu, T., Wang, T.-J., Jian, Y.-R., Lee, T., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.20617 · Cited by 31

Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss

Zheng, J., Bai, X., Xiao, Y., Ji, Y., Meng, F., Aishanjiang, M., Gao, Y., Wang, H., Fu, Y., & Guan, M. (2020) · Mitochondrion · doi:10.1016/j.mito.2020.03.005 · Cited by 31

Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases

Tomoda, E., Nagao, A., Shirai, Y. M., Asano, K., Suzuki, T., Battersby, B. J., & Suzuki, T. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad139 · Cited by 31

Mitochondrial Diseases ‐ An Expanding Spectrum of Disorders and Affected Genes

von Kleist-Retzow, J., Schauseil-Zipf, U., Michalk, D. V., & Kunz, W. S. (2003) · Experimental Physiology · doi:10.1113/eph8802509 · Cited by 28

Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene

Maniura‐Weber, K., Helm, M., Engemann, K., Eckertz, S., Möllers, M., Schauen, M., Hayrapetyan, A., von Kleist-Retzow, J., Lightowlers, R. N., Bindoff, L. A., et al. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl727 · Cited by 30

Defective Expression of the Mitochondrial-tRNA Modifying Enzyme GTPBP3 Triggers AMPK-Mediated Adaptive Responses Involving Complex I Assembly Factors, Uncoupling Protein 2, and the Mitochondrial Pyruvate Carrier

Martínez-Zamora, A., Meseguer, S., Esteve, J. M., Villarroya, M., Aguado, C., Enrı́quez, J. A., Knecht, E., & Armengod, M. ‐. (2015) · PLoS ONE · doi:10.1371/journal.pone.0144273 · Cited by 31

The potential risks of abnormal transmission of mtDNA through assisted reproductive technologies

John, J. C. S., Lloyd, R. E. I., & Shourbagy, S. H. E. (2004) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60496-8 · Cited by 30

Search for Difference in Aminoacylation of Mitochondrial DNA‐encoded Wild‐type and Mutant Human tRNALeu?(UUR)

Wang, Z.-C., Xue‐min, W., You‐Xin, J., Jiao, B., Xu, F., Mingyong, M., & Ke‐Jun, Z. (2003) · IUBMB Life · doi:10.1080/1521654031000110190 · Cited by 1

Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS‐associated mutations

Hao, R., Yao, Y., Zheng, Y., Xu, M., & Wang, E. (2004) · FEBS Letters · doi:10.1016/j.febslet.2004.11.004 · Cited by 26

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2

Sasarman, F., Antonická, H., & Shoubridge, E. A. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn265 · Cited by 153

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

King, M. P., Koga, Y., Davidson, M., & Schon, E. A. (1992) · Molecular and Cellular Biology · doi:10.1128/mcb.12.2.480 · Cited by 458

The mitochondrial tRNALeu(UUR) mutation in MELAS: a model for pathogenesis

Schon, E. A., Koga, Y., Davidson, M. M., Moraes, C. T., & King, M. P. (1992) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/0005-2728(92)90226-r · Cited by 74