Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNALys with the MERRF encephalomyopathy pathogenic mutation

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 · see citing works

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 1,659 · see citing works

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 1,468 · see citing works

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 · see citing works

Diseases of the mitochondrial DNA

Wallace, D. C. (1992) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.61.070192.005523 · Cited by 1,319 · see citing works

Trna: Structure, Biosynthesis, and Function

Söll, D. G., & RajBhandary, U. L. (1995) · Cited by 901 · see citing works

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction.

Hayashi, J., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y., & Nonaka, I. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.23.10614 · Cited by 552 · see citing works

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 · see citing works

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 · see citing works

A point mutation in the mitochondrial tRNALeu(UUR) gene in melas (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)

Kobayashi, Y., Momoi, M. Y., Tominaga, K., Momoi, T., Nihei, K., Yanagisawa, M., Kagawa, Y., & Ohta, S. (1990) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(05)80860-5 · Cited by 363 · see citing works

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

Goto, Y., Nonaka, I., & Horai, S. (1991) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(91)90042-8 · Cited by 325 · see citing works

Phy M: an RNase activity specific for U and A residues useful in RNA sequence analysis

Donis-Keller, H. (1980) · Nucleic Acids Research · doi:10.1093/nar/8.14.3133 · Cited by 323 · see citing works

In Vitro Genetic Transfer of Protein Synthesis and Respiration Defects to Mitochondrial DNA-Less Cells with Myopathy-Patient Mitochondria

Chomyn, A., Meola, G., Bresolin, N., Lai, S. T., Scarlato, G., & Attardi, G. M. (1991) · Molecular and Cellular Biology · doi:10.1128/mcb.11.4.2236 · Cited by 301 · see citing works

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination

Enriquez, J. A., Chomyn, A., & Attardi, G. (1995) · Nature Genetics · doi:10.1038/ng0595-47 · Cited by 285 · see citing works

Different pattern of codon recognition by mammalian mitochondrial tRNAs.

Barrell, B. G., Anderson, S. K., Bankier, A. T., de Bruijn, M. H. L., Chen, E., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., et al. (1980) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.77.6.3164 · Cited by 270 · see citing works

Novel features in the genetic code and codon reading patterns in Neurospora crassa mitochondria based on sequences of six mitochondrial tRNAs

Heckman, J. E., Sarnoff, J., Alzner-Deweerd, B., Yin, S., & RajBhandary, U. L. (1980) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.77.6.3159 · Cited by 246 · see citing works

The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA

Helm, M., Brulé, H., Degoul, F., Cepanec, C., Leroux, J. P., Giegé, R., & Florentz, C. (1998) · Nucleic Acids Research · doi:10.1093/nar/26.7.1636 · Cited by 230 · see citing works

Complementation of Mutant and Wild-Type Human Mitochondrial DNAs Coexisting Since the Mutation Event and Lack of Complementation of DNAs Introduced Separately into a Cell within Distinct Organelles

Yoneda, M., Miyatake, T., & Attardi, G. M. (1994) · Molecular and Cellular Biology · doi:10.1128/mcb.14.4.2699 · Cited by 193 · see citing works

Mobilities of modified ribonucleotides on two-dimensional cellulose thin-layer chromatography

Keith, G. (1995) · Biochimie · doi:10.1016/0300-9084(96)88118-1 · Cited by 154 · see citing works

The ‘polysemous’ codon—a codon with multiple amino acid assignment caused by dual specificity of tRNA identity

Suzuki, T., Ueda, T., & Watanabe, K. (1997) · The EMBO Journal · doi:10.1093/emboj/16.5.1122 · Cited by 144 · see citing works

Human Mitochondrial Diseases: Answering Questions and Questioning Answers

Howell, N. (1998) · International review of cytology · doi:10.1016/s0074-7696(08)61051-7 · Cited by 118 · see citing works

Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).

Kobayashi, Y., Momoi, M. Y., Tominaga, K., Shimoizumi, H., Nihei, K., Yanagisawa, M., Kagawa, Y., & Ohta, S. (1991) · Europe PMC (PubMed Central) · Cited by 92 · see citing works

The Diabetes-associated 3243 Mutation in the Mitochondrial tRNALeu(UUR) Gene Causes Severe Mitochondrial Dysfunction without a Strong Decrease in Protein Synthesis Rate

Janssen, G. M. C., Maassen, J. A., & van den Ouweland, J. M. W. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.42.29744 · Cited by 86 · see citing works

Higher-order structure of bovine mitochondrial tRNAPhelacking the ‘conserved’ GG and TΨCG sequences as inferred by enzymatic and chemical probing

Wakita, K., Watanabe, Y.-I., Yokogawa, T., Kumazawa, Y., Nakamura, S., Ueda, T., Watanabe, K., & Nishikawa, K. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.3.347 · Cited by 85 · see citing works

[24] Analysis of modified nucleosides and nucleotide sequence of tRNA

Kuchino, Y., Hanyu, N., & Nishimura, S. (1987) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(87)55026-1 · Cited by 83 · see citing works

Accumulation of mtDNA with a Mutation at Position 3271 in tRNALeu(UUR) Gene Introduced from a Melas Patient to HeLa Cells Lacking mtDNA Results in Progressive Inhibition of Mitochondrial Respiratory Function

Hayashi, J., Ohta, S., Takai, D., Miyabayashi, S., Sakuta, R., Goto, Y., & Nonaka, I. (1993) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1993.2584 · Cited by 78 · see citing works

A Novel Wobble Rule Found in Starfish Mitochondria

Matsuyama, S., Ueda, T., Crain, P. F., McCloskey, J. A., & Watanabe, K. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.6.3363 · Cited by 61 · see citing works

Translation of Synonymous Codons in Family Boxes byMycoplasma capricolumtRNAs with Unmodified Uridine or Adenosine at the First Anticodon Position

Inagaki, Y., Kojima, A., Bessho, Y., Hori, H., Ohama, T., & Osawa, S. (1995) · Journal of Molecular Biology · doi:10.1006/jmbi.1995.0450 · Cited by 56 · see citing works

7-Methylguanosine at the anticodon wobble position of squid mitochondrial tRNASerGCU: molecular basis for assignment of AGA/AGG codons as serine in invertebrate mitochondria

Tomita, K., Ueda, T., & Watanabe, K. (1998) · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · doi:10.1016/s0167-4781(98)00099-2 · Cited by 44 · see citing works

Unconventional reading of the glycine codons.

Samuelsson, T., Axberg, T., Borén, T., & Lagerkvist, U. (1983) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)44098-1 · Cited by 42 · see citing works

High Sensitive Analysis of Modified Nucleosides by LC/MS Using ESI/Iontrap Mass Spectrometry.

Suzuki, T., Suzuki, T., Takuya, U. E. D. A., & WATANABE, K. (1999) · Journal of the Mass Spectrometry Society of Japan · doi:10.5702/massspec.47.168 · Cited by 3 · see citing works

The expanding world of tRNA modifications and their disease relevance

Suzuki, T. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-021-00342-0 · Cited by 733 · see citing works

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 · see citing works

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 · see citing works

Role of tRNA modifications in human diseases

Torres, A. G., Batlle, E., & de Pouplana, L. R. (2014) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2014.01.008 · Cited by 413 · see citing works

Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases

Suzuki, T., Suzuki, T., Wada, T., Saigo, K., & Watanabe, K. (2002) · The EMBO Journal · doi:10.1093/emboj/cdf656 · Cited by 388 · see citing works

A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs

Suzuki, T., & Suzuki, T. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku390 · Cited by 305 · see citing works

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 · see citing works

Complete chemical structures of human mitochondrial tRNAs

Suzuki, T., Yashiro, Y., Kikuchi, I., Ishigami, Y., Saito, H., Matsuzawa, I., Okada, S., Mito, M., Iwasaki, S., Ma, D., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-18068-6 · Cited by 281 · see citing works

Mitochondrial translation requires folate-dependent tRNA methylation

Morscher, R. J., Ducker, G. S., Li, H., Mayer, J., Gitai, Z., Sperl, W., & Rabinowitz, J. D. (2018) · Nature · doi:10.1038/nature25460 · Cited by 278 · see citing works

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 · see citing works

NSUN3 methylase initiates 5-formylcytidine biogenesis in human mitochondrial tRNAMet

Nakano, S., Suzuki, T., Kawarada, L., Iwata, H., Asano, K., & Suzuki, T. (2016) · Nature Chemical Biology · doi:10.1038/nchembio.2099 · Cited by 251 · see citing works

Wobble modification defect in tRNA disturbs codon–anticodon interaction in a mitochondrial disease

Yasukawa, T., Suzuki, T., Ishii, N., Ohta, S., & Watanabe, K. (2001) · The EMBO Journal · doi:10.1093/emboj/20.17.4794 · Cited by 240 · see citing works

Mitochondria-specific RNA-modifying Enzymes Responsible for the Biosynthesis of the Wobble Base in Mitochondrial tRNAs

Umeda, N., Suzuki, T., Yukawa, M., Ohya, Y., Shindo, H., Watanabe, K., & Suzuki, T. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m409306200 · Cited by 230 · see citing works

Mechanistic characterization of the sulfur-relay system for eukaryotic 2-thiouridine biogenesis at tRNA wobble positions

Noma, A., Sakaguchi, Y., & Suzuki, T. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn1023 · Cited by 229 · see citing works

tRNA Biology in Mitochondria

Salinas‐Giegé, T., Giegé, R., & Giegé, P. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms16034518 · Cited by 213 · see citing works

The Universally Conserved Prokaryotic GTPases

Verstraeten, N., Fauvart, M., Versées, W., & Michiels, J. J. (2011) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00009-11 · Cited by 206 · see citing works

Mitochondrial tRNA mutations and disease

Yarham, J. W., Elson, J. L., Blakely, E. L., McFarland, R., & Taylor, R. W. (2010) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.27 · Cited by 182 · see citing works

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs

Haute, L. V., Lee, S.-Y., McCann, B. J., Powell, C. A., Bansal, D., Vasiliauskaitė, L., Garone, C., Shin, S., Kim, J., Frye, M., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz559 · Cited by 174 · see citing works

MnmA and IscS Are Required for in Vitro 2-Thiouridine Biosynthesis in Escherichia coli

Kambampati, R., & Lauhon, C. T. (2003) · Biochemistry · doi:10.1021/bi026536+ · Cited by 168 · see citing works

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 · see citing works

Chemical and Conformational Diversity of Modified Nucleosides Affects tRNA Structure and Function

Väre, V. Y. P., Eruysal, E., Narendran, A., Sarachan, K. L., & Agris, P. F. (2017) · Biomolecules · doi:10.3390/biom7010029 · Cited by 162 · see citing works

Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease

Asano, K., Suzuki, T., Saito, A., Wei, F., Ikeuchi, Y., Numata, T., Tanaka, R., YAMANE, Y., Yamamoto, T., Goto, T., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky068 · Cited by 159 · see citing works

Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells

Kolesnikova, O. A., Entelis, N. S., Jacquin-Becker, C., Goltzene, F., Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N., Martin, R. P., & Tarassov, I. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh267 · Cited by 157 · see citing works

Modified Uridines with C5-methylene Substituents at the First Position of the tRNA Anticodon Stabilize U·G Wobble Pairing during Decoding

Kurata, S., Weixlbaumer, A., Ohtsuki, T., Shimazaki, T., Wada, T., Kirino, Y., Takai, K., Watanabe, K., Ramakrishnan, V., & Suzuki, T. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m800233200 · Cited by 156 · see citing works

The mitochondrial epitranscriptome: the roles of RNA modifications in mitochondrial translation and human disease

Bohnsack, M. T., & Sloan, K. E. (2017) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-017-2598-6 · Cited by 145 · see citing works

Defects in tRNA Anticodon Loop 2′-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations inFTSJ1

Guy, M. P., Shaw, M. A., Weiner, C. L., Hobson, L., Stark, Z., Rose, K., Kalscheuer, V. M., Gécz, J., & Phizicky, E. M. (2015) · Human Mutation · doi:10.1002/humu.22897 · Cited by 140 · see citing works

Yeast Nfs1p Is Involved in Thio-modification of Both Mitochondrial and Cytoplasmic tRNAs

Nakai, Y., Umeda, N., Suzuki, T., Nakai, M., Hayashi, H., Watanabe, K., & Kagamiyama, H. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m312448200 · Cited by 140 · see citing works

Lactic acidemia and mitochondrial disease

ROBINSON, B. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.05.015 · Cited by 137 · see citing works

Isolation and Characterization of the Putative Nuclear Modifier Gene MTO1 Involved in the Pathogenesis of Deafness-associated Mitochondrial 12 S rRNA A1555G Mutation

Li, X., Li, R., Lin, X., & Guan, M. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m203267200 · Cited by 134 · see citing works

Transfer RNAs: diversity in form and function

Berg, M. D., & Brandl, C. J. (2020) · RNA Biology · doi:10.1080/15476286.2020.1809197 · Cited by 131 · see citing works

Nucleoside modifications in the regulation of gene expression: focus on tRNA

Duechler, M., Leszczyńska, G., Sochacka, E., & Nawrot, B. (2016) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-016-2217-y · Cited by 128 · see citing works

Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications

Chujo, T., & Tomizawa, K. (2021) · FEBS Journal · doi:10.1111/febs.15736 · Cited by 121 · see citing works

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 112 · see citing works

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 · see citing works

Chemical trapping and crystal structure of a catalytic tRNA guanine transglycosylase covalent intermediate

Xie, W., Liu, X., & Huang, R. H. (2003) · Nature Structural & Molecular Biology · doi:10.1038/nsb976 · Cited by 111 · see citing works

Biosynthesis and functions of sulfur modifications in tRNA

Shigi, N. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00067 · Cited by 108 · see citing works

Mitochondrial Protein Translation: Emerging Roles and Clinical Significance in Disease

Wang, F., Zhang, D., Zhang, D., Li, P., & Gao, Y. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.675465 · Cited by 107 · see citing works

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 · see citing works

Biosynthesis and function of tRNA wobble modifications

Suzuki, T. (2005) · Topics in current genetics · doi:10.1007/b106361 · Cited by 99 · see citing works

Mitochondrial DNA disease—molecular insights and potential routes to a cure

Russell, O. M., & Turnbull, D. M. (2014) · Experimental Cell Research · doi:10.1016/j.yexcr.2014.03.012 · Cited by 96 · see citing works

Disorders of mitochondrial protein synthesis

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

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

Richter, U., Evans, M., Clark, W. C., Marttinen, P., Shoubridge, E. A., Suomalainen, A., Wredenberg, A., Wedell, A., Pan, T., & Battersby, B. J. (2018) · Nature Communications · doi:10.1038/s41467-018-06471-z · Cited by 91 · see citing works

Shared Sulfur Mobilization Routes for tRNA Thiolation and Molybdenum Cofactor Biosynthesis in Prokaryotes and Eukaryotes

Leimkühler, S., Bühning, M., & Beilschmidt, L. K. (2017) · Biomolecules · doi:10.3390/biom7010005 · Cited by 90 · see citing works

mitoTev‐TALE: a monomeric DNA editing enzyme to reduce mutant mitochondrial DNA levels

Pereira, C. V., Bacman, S. R., Arguello, T., Zekonyte, U., Williams, S. L., Edgell, D. R., & Moraes, C. T. (2018) · EMBO Molecular Medicine · doi:10.15252/emmm.201708084 · Cited by 85 · see citing works

Unique features of animal mitochondrial translation systems - The non-universal genetic code, unusual features of the translational apparatus and their relevance to human mitochondrial diseases -

Watanabe, K. (2010) · Proceedings of the Japan Academy Series B · doi:10.2183/pjab.86.11 · Cited by 84 · see citing works

Human Mitochondrial Diseases Associated with tRNA Wobble Modification Deficiency

Kirino, Y., & Suzuki, T. (2005) · RNA Biology · doi:10.4161/rna.2.2.1610 · Cited by 84 · see citing works

Mitochondrial transcript maturation and its disorders

Haute, L. V., Pearce, S. F., Powell, C. A., D’Souza, A. R., Nicholls, T. J. J., & Minczuk, M. A. (2015) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-015-9859-z · Cited by 81 · see citing works

The structure of the TrmE GTP‐binding protein and its implications for tRNA modification

Scrima, A., Vetter, I. R., Armengod, M. ‐., & Wittinghofer, A. (2004) · The EMBO Journal · doi:10.1038/sj.emboj.7600507 · Cited by 80 · see citing works

Modify or die? - RNA modification defects in metazoans

Sarin, L. P., & Leidel, S. A. (2014) · RNA Biology · doi:10.4161/15476286.2014.992279 · Cited by 76 · see citing works

A [3Fe-4S] cluster is required for tRNA thiolation in archaea and eukaryotes

Liu, Y., Vinyard, D. J., Reesbeck, M. E., Suzuki, T., Manakongtreecheep, K., Holland, P. L., Brudvig, G. W., & Söll, D. G. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1615732113 · Cited by 78 · see citing works

Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases

Yasukawa, T., Kirino, Y., Ishii, N., Holt, I. J., Jacobs, H. T., Makifuchi, T., Fukuhara, N., Ohta, S., Suzuki, T., & Watanabe, K. (2005) · FEBS Letters · doi:10.1016/j.febslet.2005.04.038 · Cited by 75 · see citing works

The Roles of Mitochondrial Folate Metabolism in Supporting Mitochondrial DNA Synthesis, Oxidative Phosphorylation, and Cellular Function

Xiu, Y., & Field, M. S. (2020) · Current Developments in Nutrition · doi:10.1093/cdn/nzaa153 · Cited by 74 · see citing works

Taurine Ameliorates Impaired the Mitochondrial Function and Prevents Stroke-like Episodes in Patients with MELAS

Rikimaru, M., Ohsawa, Y., Wolf, A. M., Nishimaki, K., Ichimiya, H., Kamimura, N., Nishimatsu, S., Ohta, S., & Sunada, Y. (2012) · Internal Medicine · doi:10.2169/internalmedicine.51.7529 · Cited by 74 · see citing works

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 · see citing works

Biosynthesis of Sulfur-Containing tRNA Modifications: A Comparison of Bacterial, Archaeal, and Eukaryotic Pathways

Cavuzic, M. T., & Liu, Y. (2017) · Biomolecules · doi:10.3390/biom7010027 · Cited by 71 · see citing works

Roles of Elongator Dependent tRNA Modification Pathways in Neurodegeneration and Cancer

Hawer, H., Hammermeister, A., Ravichandran, K. E., Glatt, S., Schaffrath, R., & Klassen, R. (2018) · Genes · doi:10.3390/genes10010019 · Cited by 61 · see citing works

Mitochondrial functions and rare diseases

Dard, L., Blanchard, W., Hubert, C., Lacombe, D., & Rossignol, R. (2020) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2019.100842 · Cited by 61 · see citing works

The molecular pathology of pathogenic mitochondrial tRNA variants

Richter, U., McFarland, R., Taylor, R. W., & Pickett, S. J. (2021) · FEBS Letters · doi:10.1002/1873-3468.14049 · Cited by 58 · see citing works

Characterization of Human GTPBP3, a GTP-Binding Protein Involved in Mitochondrial tRNA Modification

Villarroya, M., Prado, S., Esteve, J. M., Soriano, M. A., Aguado, C., Pérez-Martínez, D., Martínez‐Ferrandis, J. I., Yim, L., Víctor, V. M., Cebolla, E., et al. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.00946-08 · Cited by 57 · see citing works

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation

Sasarman, F., Antonická, H., Horváth, R., & Shoubridge, E. A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr397 · Cited by 56 · see citing works

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 · see citing works

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 · see citing works

Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10

de la Mata, M., Garrido‐Maraver, J., Cotán, D., Cordero, M. D., Oropesa-Ávila, M., Izquierdo, L. G., de Miguel, M., Lorite, J. B., Rivas, E., Ybot‐González, P., et al. (2012) · Neurotherapeutics · doi:10.1007/s13311-012-0103-3 · Cited by 54 · see citing works

Nuclear Control of Cloverleaf Structure of Human Mitochondrial tRNALys

Helm, M., & Attardi, G. M. (2004) · Journal of Molecular Biology · doi:10.1016/j.jmb.2004.01.036 · Cited by 53 · see citing works

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 · see citing works

Conserved Cysteine Residues of GidA Are Essential for Biogenesis of 5-Carboxymethylaminomethyluridine at tRNA Anticodon

Osawa, T., Ito, K., Inanaga, H., Nureki, O., Tomita, K., & Numata, T. (2009) · Structure · doi:10.1016/j.str.2009.03.013 · Cited by 51 · see citing works

Correlated evolution of social organization and lifespan in mammals

Zhu, P., Liu, W., Zhang, X., Li, M., Liu, G., Yu, Y., Li, X., Li, X., Du, J., Wang, X., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-35869-7 · Cited by 48 · see citing works

A pathogenic point mutation reduces stability of mitochondrial mutant tRNAIle

Yasukawa, T. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.19.3779 · Cited by 48 · see citing works

A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation

Chen, C., Chen, Y., & Guan, M. (2015) · Protein & Cell · doi:10.1007/s13238-015-0175-z · Cited by 46 · see citing works

Pathogenic mechanism of a human mitochondrial tRNA ^Phe mutation associated with myoclonic epilepsy with ragged red fibers syndrome

Ling, J., Roy, H., Qin, D., Rubio, M. A. T., Alfonzo, J. D., Fredrick, K., & Ibba, M. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0704441104 · Cited by 45 · see citing works

Parkin-mediated mitophagy and autophagy flux disruption in cellular models of MERRF syndrome

Paz, M. V., Povea-Cabello, S., Villalón-García, I., Álvarez-Córdoba, M., Suarez-Rivero, J. M., Talaverón-Rey, M., Jackson, S., Falcón‐Moya, R., Moreno, A. R., & Sánchez-Alcázar, J. A. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2020.165726 · Cited by 43 · see citing works

The human tRNA taurine modification enzyme GTPBP3 is an active GTPase linked to mitochondrial diseases

Peng, G.-X., Zhang, Y., Wang, Q.-Q., Li, Q., Xu, H. Y., Wang, E., & Zhou, X.-L. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab104 · Cited by 42 · see citing works

Decreased CCA-addition in Human Mitochondrial tRNAs Bearing a Pathogenic A4317G or A10044G Mutation

Tomari, Y., Hino, N., Nagaike, T., Suzuki, T., & Ueda, T. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m213216200 · Cited by 40 · see citing works

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 · see citing works

Diverse Mechanisms of Sulfur Decoration in Bacterial tRNA and Their Cellular Functions

Zheng, C., Black, K. A., & Santos, P. C. D. (2017) · Biomolecules · doi:10.3390/biom7010033 · Cited by 34 · see citing works

Modifications of the human tRNA anticodon loop and their associations with genetic diseases

Zhou, J.-B., Wang, E., & Zhou, X.-L. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03948-x · Cited by 34 · see citing works

Molecular Investigations on tRNAs Involved in Human Mitochondrial Disorders

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

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 · see citing works

Posttranscriptional modifications in mitochondrial tRNA and its implication in mitochondrial translation and disease

Tomizawa, K., & Wei, F. (2020) · The Journal of Biochemistry · doi:10.1093/jb/mvaa098 · Cited by 31 · see citing works

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 · see citing works

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 · see citing works

Mitochondrial noncoding RNAs: new wine in an old bottle

Liang, H., Liu, J., Su, S., & Zhao, Q. (2021) · RNA Biology · doi:10.1080/15476286.2021.1935572 · Cited by 30 · see citing works

Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming

Paz, M. V., Povea-Cabello, S., Villalón-García, I., Suarez-Rivero, J. M., Álvarez-Córdoba, M., de la Mata, M., Talaverón-Rey, M., Jackson, S., & Sánchez-Alcázar, J. A. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2019.02.010 · Cited by 30 · see citing works

Mito-FUNCAT-FACS reveals cellular heterogeneity in mitochondrial translation

Kimura, Y., Saito, H., Osaki, T., Ikegami, Y., Wakigawa, T., Ikeuchi, Y., & Iwasaki, S. (2022) · RNA · doi:10.1261/rna.079097.122 · Cited by 29 · see citing works

The defective expression of gtpbp3 related to tRNA modification alters the mitochondrial function and development of zebrafish

Chen, D., Li, F., Yang, Q., Tian, M., Zhang, Z., Zhang, Q., Chen, Y., & Guan, M. (2016) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2016.05.012 · Cited by 29 · see citing works

Hitting the brakes: Termination of mitochondrial transcription

Guja, K. E., & García–Díaz, M. (2011) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2011.11.004 · Cited by 25 · see citing works

The epitranscriptome in ageing and stress resistance: A systematic review

Wagner, A., & Schosserer, M. (2022) · Ageing Research Reviews · doi:10.1016/j.arr.2022.101700 · Cited by 25 · see citing works

Quick two-step RNA ligation employing periodate oxidation

Kurata, S. (2003) · Nucleic Acids Research · doi:10.1093/nar/gng145 · Cited by 23 · see citing works

Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations

Ding, Y., Gao, B., & Huang, J. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11216431 · Cited by 21 · see citing works

Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase

Yan, Q., & Guan, M. (2003) · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · doi:10.1016/j.bbaexp.2003.11.010 · Cited by 21 · see citing works

Rescuing stalled mammalian mitoribosomes – what can we learn from bacteria?

Ayyub, S. A., Gao, F., Lightowlers, R. N., & Chrzanowska‐Lightowlers, Z. M. (2020) · Journal of Cell Science · doi:10.1242/jcs.231811 · Cited by 19 · see citing works

tRNA modifications: greasing the wheels of translation and beyond

Zhang, M., & Lu, Z. (2024) · RNA Biology · doi:10.1080/15476286.2024.2442856 · Cited by 19 · see citing works

Role of Modified Nucleosides in the Translation Function of tRNAs from Extreme Thermophilic Bacteria and Animal Mitochondria

Watanabe, K. (2007) · Bulletin of the Chemical Society of Japan · doi:10.1246/bcsj.80.1253 · Cited by 18 · see citing works

Mitochondrial myopathy with autophagic vacuoles in patients with the m.8344A>G mutation

Yuan, J., Sakiyama, Y., Higuchi, I., Inamori, Y., Higuchi, Y., Hashiguchi, A., Higashi, K., Yoshimura, A., & Takashima, H. (2013) · Journal of Clinical Pathology · doi:10.1136/jclinpath-2012-201431 · Cited by 17 · see citing works

Targeting of tRNA into yeast and human mitochondria: the role of anticodon nucleotides

Kolesnikova, O., Entelis, N., Kazakova, H., Brandina, I., Martin, R. P., & Tarassov, I. (2002) · Mitochondrion · doi:10.1016/s1567-7249(02)00013-2 · Cited by 17 · see citing works

Wobble modification defect suppresses translational activity of tRNAs with MERRF and MELAS mutations

Yasukawa, T., Suzuki, T., Ohta, S., & Watanabe, K. (2002) · Mitochondrion · doi:10.1016/s1567-7249(02)00033-8 · Cited by 16 · see citing works

The pathogenic A4269G mutation in human mitochondrial tRNA^Ile alters the T‐stem structure and decreases the binding affinity for elongation factor Tu

Hino, N., Suzuki, T., Yasukawa, T., Seio, K., Watanabe, K., & Ueda, T. (2004) · Genes to Cells · doi:10.1111/j.1356-9597.2004.00718.x · Cited by 15 · see citing works

Mitochondrial disorders

Zeviani, M., & Klopstock, T. (2001) · Current Opinion in Neurology · doi:10.1097/00019052-200110000-00002 · Cited by 15 · see citing works

Identification of the enzymes responsible for m2,2G and acp3U formation on cytosolic tRNA from insects and plants

Funk, H. M., Zhao, R., Thomas, M., Spigelmyer, S. M., Sebree, N. J., Bales, R. O., Burchett, J. B., Mamaril, J. B., Limbach, P. A., & Guy, M. P. (2020) · PLoS ONE · doi:10.1371/journal.pone.0242737 · Cited by 14 · see citing works

The importance of RNA modifications: From cells to muscle physiology

Das, A. S., Alfonzo, J. D., & Accornero, F. (2021) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1700 · Cited by 14 · see citing works

Translational down-regulation of gene expression

Thomason, D. B., Wong, J., Fu, L., Schneider, E. M., Ku, Z., Menon, V., & Yang, J. (1998) · Pathophysiology · doi:10.1016/s0928-4680(98)80759-1

Wobble modification defect in tRNA disturbs codon–anticodon interaction in a mitochondrial disease

Yasukawa, T., Suzuki, T., Ishii, N., Ohta, S., & Watanabe, K. (2001) · The EMBO Journal · doi:10.1093/emboj/20.17.4794 · Cited by 240 · see citing works

Wobble modification defect suppresses translational activity of tRNAs with MERRF and MELAS mutations

Yasukawa, T., Suzuki, T., Ohta, S., & Watanabe, K. (2002) · Mitochondrion · doi:10.1016/s1567-7249(02)00033-8 · Cited by 16 · see citing works

P472 The role of oculographic recordings in mitochondrial encephalomyopathies

Traccis, S., Serra, G., Pugliatti, M., Masala, P. G., Boé, C., Pirastru, M., Aiello, I., & Rosati, G. (1996) · Electroencephalography and Clinical Neurophysiology · doi:10.1016/0013-4694(96)88647-0

P473 Saccadic eye movements during intracarotid amobarbital anesthesia

Koehler, W., Melchers, M., Linke, D. B., Solymosi, L., Urbach, H., Elger, C. E., & Schramm, J. C. (1996) · Electroencephalography and Clinical Neurophysiology · doi:10.1016/0013-4694(96)88648-2