Impairment of tRNA processing by point mutations in mitochondrial tRNALeu(UUR) associated with mitochondrial diseases

Sequence and organization of the human mitochondrial genome

Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,640 · see citing works

tRNA punctuation model of RNA processing in human mitochondria

Ojala, D., Montoya, J., & Attardi, G. M. (1981) · Nature · doi:10.1038/290470a0 · Cited by 2,536 · see citing works

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

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

Trna: Structure, Biosynthesis, and Function

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

A simple method for site-directed mutagenesis using the polymerase chain reaction

Hemsley, A., Arnheim, N., Toney, M. D., Cortopassi, G. A., & Galas, D. J. (1989) · Nucleic Acids Research · doi:10.1093/nar/17.16.6545 · Cited by 603 · see citing works

Mitochondrial DNA sequence variation in human evolution and disease.

Wallace, D. C. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.19.8739 · Cited by 520 · see citing works

The complete nucleotide sequence of theRattus norvegicus mitochondrial genome: Cryptic signals revealed by comparative analysis between vertebrates

Gadaleta, G., Pepe, G., Candia, G. D., Quagliariello, C., Sbisà, E., & Saccone, C. (1989) · Journal of Molecular Evolution · doi:10.1007/bf02602930 · Cited by 516 · see citing works

MOLECULAR GENETIC ASPECTS OF HUMAN MITOCHONDRIAL DISORDERS

Larsson, N.-G., & Clayton, D. A. (1995) · Annual Review of Genetics · doi:10.1146/annurev.ge.29.120195.001055 · Cited by 493 · see citing works

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 · see citing works

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

Zeviani, M., Gellera, C., Antozzi, C. G., Rimoldi, M., Morandi, L. O., Tiranti, V., DiDonato, S., & Villani, F. (1991) · The Lancet · doi:10.1016/0140-6736(91)90136-d · Cited by 379 · see citing works

Sequence evolution of mitochondrial tRNA genes and deep-branch animal phylogenetics

Kumazawa, Y., & Nishida, M. (1993) · Journal of Molecular Evolution · doi:10.1007/bf00178868 · Cited by 376 · 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

Termination of transcription in human mitochondria: Identification and purification of a DNA binding protein factor that promotes termination

Kruse, B., Narasimhan, N., & Attardi, G. M. (1989) · Cell · doi:10.1016/0092-8674(89)90853-2 · Cited by 311 · see citing works

The development of mitochondrial medicine.

Luft, R. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.19.8731 · Cited by 302 · 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

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

Moraes, C. T., Ricci, E., Bonilla, E., DiMauro, S., & Schon, E. A. (1992) · PubMed · Cited by 244 · see citing works

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

Hess, J. F., Parisi, M. A., Bennett, J. L., & Clayton, D. A. (1991) · Nature · doi:10.1038/351236a0 · Cited by 234 · see citing works

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R. E., Rowland, L. P., Schon, E. A., & DiMauro, S. (1993) · Journal of Clinical Investigation · doi:10.1172/jci116913 · Cited by 218 · see citing works

A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy

Silvestri, G., Santorelli, F. M., Shanske, S., Whitley, C. B., Schimmenti, L. A., Smith, S. A., & DiMauro, S. (1994) · Human Mutation · doi:10.1002/humu.1380030107 · Cited by 177 · see citing works

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.

Bindoff, L. A., Howell, N., Poulton, J., McCullough, D. A., Morten, K., Lightowlers, R. N., Turnbull, D. M., & Weber, K. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)36552-4 · Cited by 166 · see citing works

Human Mitochondrial tRNA Processing

Rossmanith, W., Tullo, A., Potuschak, T., Karwan, R. M., & Sbis, E. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.21.12885 · Cited by 151 · see citing works

A new point mutation associated with mitochondrial encephalomyopathy

Morten, K., Cooper, J. A. D., Brown, G. K., Lake, B. D., PIke, D., & Poulton, J. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.12.2081 · Cited by 138 · see citing works

Compilation of tRNA sequences and sequences of tRNA genes

Sprinzl, M. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.1.68 · Cited by 131 · see citing works

Primary, Secondary, and Tertiary Structures of tRNAs

Dirheimer, G., Keith, G., Dumas, P., & Westhof, É. (2014) · ASM Press eBooks · doi:10.1128/9781555818333.ch8 · Cited by 123 · see citing works

A mitochondrial tRNA anticodon swap associated with a muscle disease

Moraes, C. T., Ciacci, F., Bonilla, E., Ionasescu, V. V., Schon, E. A., & DiMauro, S. (1993) · Nature Genetics · doi:10.1038/ng0793-284 · Cited by 122 · see citing works

Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

Ozawa, T., Tanaka, M., Ino, H., Ohno, K., Sano, T., Wada, Y., Yoneda, M., Tanno, Y., Miyatake, T., Tanaka, T., et al. (1991) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(05)80276-1 · Cited by 121 · see citing works

In Vitro Analysis of Mutations Causing Myoclonus Epilepsy with Ragged-Red Fibers in the Mitochondrial tRNALys Gene: Two Genotypes Produce Similar Phenotypes

Masucci, J. P., Davidson, M. M., Koga, Y., Schon, E. A., & King, M. P. (1995) · Molecular and Cellular Biology · doi:10.1128/mcb.15.5.2872 · Cited by 111 · see citing works

A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy

Goto, Y., Tojo, M., Tohyama, J., Horai, S., & Nonaka, I. (1992) · Annals of Neurology · doi:10.1002/ana.410310617 · Cited by 110 · see citing works

A New Point Mutation at Nucleotide Pair-3291 of the Mitochondrial Transfer-RNALeu(Uur) Gene in a Patient with Mitochondrial Myopathy, Encephalopathy, Lactic-Acidosis, and Stroke-Like Episodes (MELAS)

Goto, Y., Tsugane, K., Tanabe, Y., Nonaka, I., & Horai, S. (1994) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1994.2119 · Cited by 101 · see citing works

Mitochondrial encephalomyopathies: Clinical and molecular analysis

Schon, E. A., Hirano, M., & DiMauro, S. (1994) · Journal of Bioenergetics and Biomembranes · doi:10.1007/bf00763100 · Cited by 94 · see citing works

Substrate recognition by human RNase P: identification of small, model substrates for the enzyme.

Yuan, Y., & Altman, S. (1995) · The EMBO Journal · doi:10.1002/j.1460-2075.1995.tb06986.x · Cited by 92 · see citing works

The kinetics and specificity of cleavage by RNase P is mainly dependent on the structure of the amino acid acceptor stem

Kirsebom, L. A., & Svärd, S. G. (1992) · Nucleic Acids Research · doi:10.1093/nar/20.3.425 · Cited by 84 · see citing works

The structures and functions of transfer RNA

Goddard, J. P. (1978) · Progress in Biophysics and Molecular Biology · doi:10.1016/0079-6107(78)90021-4 · Cited by 82 · see citing works

The other human genome: Mitochondrial DNA and disease

Johns, D. R. (1996) · Nature Medicine · doi:10.1038/nm1096-1065 · Cited by 79 · see citing works

Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes.

Hayashi, J., Ohta, S., Kagawa, Y., Takai, D., Miyabayashi, S., Tada, K., Fukushima, H., Inui, K., Okada, S., & Goto, Y. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)32274-3 · Cited by 78 · 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

Characterization of Human Mitochondrial RNase P: Novel Aspects in tRNA Processing

Rossmanith, W., & Karwan, R. M. (1998) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1998.8766 · Cited by 77 · see citing works

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.

Mariotti, C., Tiranti, V., Carrara, F., Dallapiccola, B., DiDonato, S., & Zeviani, M. (1994) · Journal of Clinical Investigation · doi:10.1172/jci117061 · Cited by 77 · see citing works

Mitochondrial DNA and RNA processing in MELAS

Kaufmann, P., Shanske, S., Hirano, M., DiMauro, S., King, M. P., Koga, Y., & Schon, E. A. (1996) · Annals of Neurology · doi:10.1002/ana.410400208 · Cited by 75 · see citing works

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 · see citing works

Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene

Sweeney, M. G., Bundey, S., Brockington, M., Poulton, K., Winer, J. B., & Harding, A. E. (1993) · QJM · doi:10.1093/oxfordjournals.qjmed.a068750 · Cited by 73 · see citing works

Mitochondria1 encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNA Leu(UUR) gene

Shoffner, J. M., Bialer, M. G., Pavlakis, S. G., Lott, M. T., Kaufman, A. E., Dixon, J., Teichberg, S., & Wallace, D. C. (1995) · Neurology · doi:10.1212/wnl.45.2.286 · Cited by 68 · see citing works

Role of the D arm and the anticodon arm in tRNA recognition by eubacterial and eukaryotic RNase P enzymes

Hardt, W., Schlegl, J., Erdmann, V. A., & Hartmann, R. K. (1993) · Biochemistry · doi:10.1021/bi00211a014 · Cited by 62 · see citing works

Functional and Molecular Mitochondrial Abnormalities Associated with a C → T Transition at Position 3256 of the Human Mitochondrial Genome

Hao, H., & Moraes, C. T. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.4.2347 · Cited by 59 · see citing works

Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene

Koga, Y., Davidson, M. M., Schon, E. A., & King, M. P. (1995) · Muscle & Nerve · doi:10.1002/mus.880181424 · Cited by 54 · see citing works

Human mitochondrial transcription termination exhibits RNA polymerase independence and biased bipolarity in vitro.

Shang, J., & Clayton, D. A. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)62019-3 · Cited by 52 · see citing works

Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS

Koga, Y., Davidson, M. M., Schon, E. A., & King, M. P. (1993) · Nucleic Acids Research · doi:10.1093/nar/21.3.657 · Cited by 44 · see citing works

Two helices plus a linker: a small model substrate for eukaryotic RNase P.

Carrara, G., Calandra, P., Fruscoloni, P., & Tocchini‐Valentini, G. P. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.7.2627 · Cited by 42 · see citing works

Determinants ofEscherichia coilRNase P cleavage site selection: a detailedin vitroandin vivoanalysis

Svärd, S. G., & Kirsebom, L. A. (1993) · Nucleic Acids Research · doi:10.1093/nar/21.3.427 · Cited by 41 · see citing works

Mitochondrial Encephalomyopathy Associated with a Novel Mutation in the Mitochondrial tRNAleu(UUR)Gene (A3243T)

Shaag, A., Saada, A., Steinberg, A., Navon, P., & Elpeleg, O. N. (1997) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1997.6496 · Cited by 38 · see citing works

A single mutation in loop IV of Escherichia coli SuIII tRNA blocks processing at both 5‘- and 3‘-ends of the precursor tRNA.

Reilly, R. M., & RajBhandary, U. L. (1986) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)35875-1 · Cited by 34 · see citing works

Processing of human mitochondrial tRNAGCUSer(AGY): a novel pathway in tRNA biosynthesis

Rossmanith, W. (1997) · Journal of Molecular Biology · doi:10.1006/jmbi.1996.0750 · Cited by 34 · see citing works

tRNA processing in human mitochondrial disorders

Masucci, J. P., & Schon, E. A. (1996) · Molecular Biology Reports · doi:10.1007/bf00988727 · Cited by 10 · see citing works

The processing of wild type and mutant forms of rat nuclear pre-tRNALysby the homologous RNase P

Paisley, T. E., & Tuyle, G. C. V. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.16.3347 · Cited by 8 · see citing works

Heavy traffic at a dual-purpose human mitochondrial tRNA gene.

Clayton, D. A. (1993) · Journal of Clinical Investigation · doi:10.1172/jci116869 · Cited by 5 · 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

RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme.

Holzmann, J., Frank, P., Löffler, E., Bennett, K., Gerner, C., & Rossmanith, W. (2008) · Cell · doi:10.1016/j.cell.2008.09.013 · Cited by 650 · 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

Ribonuclease P: The Evolution of an Ancient RNA Enzyme

Walker, S. C., & Engelke, D. R. (2006) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.1080/10409230600602634 · Cited by 197 · see citing works

Mitochondrial tRNA 3' end metabolism and human disease

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

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

Haack, T. B., Kopajtich, R., Freisinger, P., Wieland, T., Rorbach, J., Nicholls, T. J. J., Baruffini, E., Walther, A., Danhauser, K., Zimmermann, F., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.06.006 · Cited by 150 · see citing works

Eukaryotic Ribonuclease P: A Plurality of Ribonucleoprotein Enzymes

Xiao, S., Houser‐Scott, F., Fierke, C. A., & Engelke, D. R. (2002) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.71.110601.135352 · Cited by 137 · see citing works

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 · see citing works

Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia

Munakata, K., Iwamoto, K., Bundo, M., & Kato, T. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2004.11.041 · Cited by 127 · see citing works

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 · see citing works

Maternally Inherited Essential Hypertension Is Associated With the Novel 4263A>G Mutation in the Mitochondrial tRNA Ile Gene in a Large Han Chinese Family

Wang, S., Li, R., Fettermann, A., Li, Z., Qian, Y., Liu, Y., Wang, X., Zhou, A., Mo, J. Q., Yang, L., et al. (2011) · Circulation Research · doi:10.1161/circresaha.110.231811 · Cited by 127 · see citing works

Of P and Z: Mitochondrial tRNA processing enzymes

Rossmanith, W. (2012) · Biochimica et Biophysica Acta · doi:10.1016/j.bbagrm.2011.11.003 · Cited by 117 · 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

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

Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR)

Helm, M., Florentz, C., Chomyn, A., & Attardi, G. (1999) · Nucleic Acids Research · doi:10.1093/nar/27.3.756 · Cited by 99 · 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

Dimerization of a pathogenic human mitochondrial tRNA

Wittenhagen, L. M., & Kelley, S. O. (2002) · Nature Structural Biology · doi:10.1038/nsb820 · Cited by 90 · 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

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

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

Powell, C. A., Nicholls, T. J., & Minczuk, M. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00079 · Cited by 84 · see citing works

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 · see citing works

Gene Rearrangements and Evolution of tRNA Pseudogenes in the Mitochondrial Genome of the Parrotfish (Teleostei: Perciformes: Scaridae)

Mabuchi, K., Miya, M. U., Satoh, T., Westneat, M. W., & Nishida, M. (2004) · Journal of Molecular Evolution · doi:10.1007/s00239-004-2621-z · Cited by 71 · see citing works

Failures in Mitochondrial tRNA Met and tRNA Gln Metabolism Caused by the Novel 4401A>G Mutation Are Involved in Essential Hypertension in a Han Chinese Family

Li, R., Liu, Y., Li, Z., Yang, L., Wang, S., & Guan, M. (2009) · Hypertension · doi:10.1161/hypertensionaha.109.129270 · Cited by 66 · see citing works

Pathology-related substitutions in human mitochondrial tRNAIle reduce precursor 3' end processing efficiency in vitro

Levinger, L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg282 · Cited by 66 · see citing works

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 · see citing works

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 · doi:10.1093/nar/29.21.4334 · Cited by 60 · see citing works

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 · 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

Association of Mitochondrial Genetic Variation with Carotid Atherosclerosis

Sobenin, I. A., Sazonova, M. A., Postnov, A. Y., Salonen, J. T., Bobryshev, Y. V., & Orekhov, A. N. (2013) · PLoS ONE · doi:10.1371/journal.pone.0068070 · Cited by 55 · see citing works

Quantitative Assessment of Heteroplasmy of Mitochondrial Genome: Perspectives in Diagnostics and Methodological Pitfalls

Sobenin, I. A., Mitrofanov, K. Y., Викторович, Ж. А., Sazonova, M. A., Postnov, A. Y., Ревин, В. В., Bobryshev, Y. V., & Orekhov, A. N. (2014) · BioMed Research International · doi:10.1155/2014/292017 · Cited by 52 · 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

Effect of thyroid hormone on mitochondrial properties and oxidative stress in cells from patients with mtDNA defects

Menzies, K. J., Robinson, B. H., & Hood, D. A. (2008) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00415.2007 · Cited by 49 · 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

Can yeast be used to study mitochondrial diseases? Biolistic tRNA mutants for the analysis of mechanisms and suppressors

Luca, C. D., Li, Y. Z., Montanari, A., Morea, V., Oliva, R., Besagni, C., Bolotin‐Fukuhara, M., Frontali, L., & Francisci, S. (2009) · Mitochondrion · doi:10.1016/j.mito.2009.07.004 · Cited by 41 · see citing works

Mitochondria: mitochondrial RNA metabolism and human disease.

Nicholls, T. J., Rorbach, J., & Minczuk, M. (2013) · International Journal of Biochemistry and Cell Biology · doi:10.1016/j.biocel.2013.01.005 · Cited by 43 · see citing works

Mutation C3256T of Mitochondrial Genome in White Blood Cells: Novel Genetic Marker of Atherosclerosis and Coronary Heart Disease

Sobenin, I. A., Sazonova, M. A., Chicheva, M. M., Zhelankin, A. V., Myasoedova, V. A., Postnov, A. Y., Nurbaev, S. D., Bobryshev, Y. V., & Orekhov, A. N. (2012) · PLoS ONE · doi:10.1371/journal.pone.0046573 · Cited by 38 · see citing works

Loss of the mitochondrial protein-only ribonuclease P complex causes aberrant tRNA processing and lethality in Drosophila

Sen, A., Karasik, A., Shanmuganathan, A., Mirkovic, E., Koutmos, M., & Cox, R. T. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw338 · Cited by 34 · see citing works

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 · 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

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

The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons

Janssen, G. M. C., Hensbergen, P. J., Bussel, F. J. V., Balog, C. I. A., Maassen, J. A., Deelder, A. M., & Raap, A. K. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm203 · Cited by 29 · see citing works

Interplay between substrate recognition, 5′ end tRNA processing and methylation activity of human mitochondrial RNase P

Karasik, A., Fierke, C. A., & Koutmos, M. (2019) · RNA · doi:10.1261/rna.069310.118 · Cited by 26 · see citing works

The pathogenic U3271C human mitochondrial tRNALeu(UUR) mutation disrupts a fragile anticodon stem

Wittenhagen, L. M. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg131 · Cited by 26 · see citing works

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases

Mkaouar‐Rebai, E., Tlili, A., Masmoudi, S., Belguith, N., Charfeddine, I., Mnif, M. F., Triki, C., & Fakhfakh, F. (2007) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2007.02.083 · Cited by 24 · see citing works

tRNA recognition, processing, and disease: Hypotheses around an unorthodox type of RNase P in human mitochondria

Holzmann, J., & Rossmanith, W. (2009) · Mitochondrion · doi:10.1016/j.mito.2009.03.008 · Cited by 24 · see citing works

Increased mitochondrial processing intermediates associated with three tRNALeu(UUR) gene mutations

Koga, A., Koga, Y., Akita, Y., Fukiyama, R., Ueki, I., Yatsuga, S., & Matsuishi, T. (2003) · Neuromuscular Disorders · doi:10.1016/s0960-8966(02)00267-5 · Cited by 24 · see citing works

Neuropsychiatric Features in Primary Mitochondrial Disease

Marin, S. E., & Saneto, R. P. (2015) · Neurologic Clinics · doi:10.1016/j.ncl.2015.08.011 · Cited by 24 · see citing works

Difference between Mitochondrial RNase P and Nuclear RNase P

Rossmanith, W., & Potuschak, T. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.23.8236-8237.2001 · Cited by 23 · see citing works

Disease-associated mutations in mitochondrial precursor tRNAs affect binding, m1R9 methylation, and tRNA processing by mtRNase P

Karasik, A., Wilhelm, C. A., Fierke, C. A., & Koutmos, M. (2020) · RNA · doi:10.1261/rna.077198.120 · Cited by 20 · see citing works

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNATrp in patients with Leigh syndrome

Mkaouar‐Rebai, E., Chamkha, I., Kammoun, F., Kammoun, T., Aloulou, H., Hachicha, M., Triki, C., & Fakhfakh, F. (2009) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2009.03.003 · Cited by 19 · see citing works

Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes

Alila‐Fersi, O., Rebai, E., Tabebi, M., Tej, A., Chamkha, I., Tlili, A., Bouguila, J., Tilouche, S., Soyah, N., Boughamoura, L., et al. (2015) · Mitochondrial DNA Part A · doi:10.3109/19401736.2015.1060417 · Cited by 13 · see citing works

A novel heteroplasmic mitochondrial DNA mutation, A8890G, in a patient with juvenile-onset metabolic syndrome: A case report

YE, W., CHEN, S., JIN, S., & LU, J. (2013) · Molecular Medicine Reports · doi:10.3892/mmr.2013.1616 · Cited by 12 · see citing works

A novel MT-CO2 m.8249G > A pathogenic variation and the MT-TW m.5521G > A mutation in patients with mitochondrial myopathy

Mkaouar‐Rebai, E., Mahmoud, A. B., Chamkha, I., Chabchoub, I., Kammoun, T., Hachicha, M., & Fakhfakh, F. (2013) · Mitochondrial DNA · doi:10.3109/19401736.2013.803086 · Cited by 12 · see citing works

Variations in mitochondrial tRNA Thr gene may not be associated with coronary heart disease

Pei, H., Peng, Q., Lan, C., & Liu, B. C. (2014) · Mitochondrial DNA Part A · doi:10.3109/19401736.2014.905862 · Cited by 12 · see citing works

Exogenous peptides are able to penetrate human cell and mitochondrial membranes, stabilize mitochondrial tRNA structures, and rescue severe mitochondrial defects

Perli, E., Pisano, A., Pignataro, M. G., Campese, A. F., Pelullo, M., Genovese, I., de Turris, V., Ghelli, A. M., Cerbelli, B., Giordano, C., et al. (2020) · The FASEB Journal · doi:10.1096/fj.201903270r · Cited by 10 · see citing works

Molecular Investigation of Mitochondrial RNA19 Role in the Pathogenesis of MELAS Disease

Polosa, P. L., Capriglia, F., & Bruni, F. (2023) · Life · doi:10.3390/life13091863 · Cited by 8 · see citing works

Mutational Analysis of Mitochondrial tRNA Genes in 200 Patients with Type 2 Diabetes Mellitus

Lin, L., Zhang, D., Jin, Q., Teng, Y., Yao, X., Zhao, T., Xu, X., & Jin, Y. (2021) · International Journal of General Medicine · doi:10.2147/ijgm.s330973 · Cited by 8 · see citing works

Defects in RNA metabolism in mitochondrial disease

Siira, S. J., Shearwood, A.-M. J., Bracken, C. P., Rackham, O., & Filipovska, A. (2017) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2017.02.003 · Cited by 7 · see citing works

Screening of mitochondrial tRNA mutations in 300 infants with hearing loss

Tang, K., Gao, Z., Han, C., Zhao, S.-L., Du, X., & Wang, W. (2018) · Mitochondrial DNA Part A · doi:10.1080/24701394.2018.1527910 · Cited by 7 · see citing works

The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes

Tabebi, M., Safi, W., Felhi, R., Alila‐Fersi, O., Keskes, L., Abid, M., Mnif, M. F., & Fakhfakh, F. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1292 · Cited by 6 · see citing works

Co‐existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome‐like symptoms

Munakata, K., Bundo, M., Kato, T., Ono, H., Sakura, N., Oosaki, M., Waki, C., & Tanaka, M. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31003 · Cited by 5 · see citing works

Novel human mitochondrial tRNAphemutation in a patient with hearing impairment: A case study

Dowlati, M. A., Derakhshandeh-Peykar, P., Houshmand, M., Farhadi, M. R., Shojaei, A., & Tavakkoly‐Bazzaz, J. (2012) · Mitochondrial DNA · doi:10.3109/19401736.2012.717935 · Cited by 4 · see citing works

Molecular Recognition of Inhibitors, Metal Ions and Substrates by Ribonuclease P.

Liu, X. (2013) · Deep Blue (University of Michigan) · Cited by 4 · see citing works

Genetic Evaluation of Mitochondria Dysfunction in Coronary Artery Disease

Doğan, N. (2023) · Turk Kardiyoloji Dernegi Arsivi-Archives of the Turkish Society of Cardiology · doi:10.5543/tkda.2022.39448 · Cited by 3 · see citing works

The protein‐only RNase Ps, endonucleases that cleave pre‐tRNA : Biological relevance, molecular architectures, substrate recognition and specificity, and protein interactomes

Wilhelm, C. A., Kaitany, K., Kelly, A., Yacoub, M., & Koutmos, M. (2024) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1836 · Cited by 3 · see citing works

The Human Mitochondrial Genome: Mechanisms of Expression and Maintenance

Berdanier, C. D. (2005) · CRC Press eBooks · doi:10.1201/9781420028843-8 · Cited by 3 · see citing works

The Human Mitochondrial Genome

Taanman, J., & Williams, S. L. (2005) · Oxidative stress and disease · doi:10.1201/9781420028843.ch3 · Cited by 3 · see citing works

Mitochondrial Dysfunction in the Cardiovascular Disease Continuum: Problems of Studying the Progression During the Follow-Up of the Pathologies

Невойт, Г. В., Potyazhenko, M., Mintser, O. P., Jaruševičius, G., & Vainoras, A. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms262110497 · Cited by 3 · see citing works

Membranous core domain of Complex I and mitochondrial disease modeling

Kervinen, M. (2006) · Cited by 1 · see citing works

Purification of mitochondrial RNase P in A. nidulans

Javadi, P. (2010)

Mutations of mitochondrial genome and atherosclerosis: Possible mechanistic relationship

Sobenin, I. A., Bobryshev, Y. V., Romanenko, E. B., & Orekhov, A. N. (2014)

A molecular atlas of cell-type specific signatures in the parkinsonian striatumPreprint

Graziano, M., Mantas, I., Masarapu, Y., Frapard, S., Garza, R., Adami, A., Fazal, S. V., Quaegebeur, A., Barker, R. A., Jakobsson, J., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.09.09.675138

Increased mitochondrial processing intermediates associated with three tRNA[Leu(UUR)] gene mutations

Koga, A. (2004)

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 · see citing works

Modification Defect at Anticodon Wobble Nucleotide of Mitochondrial tRNAsLeu(UUR) with Pathogenic Mutations of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes

Yasukawa, T., Suzuki, T., Suzuki, T., Ueda, T., Ohta, S., & Watanabe, K. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.6.4251 · Cited by 268 · see citing works

Pathophysiology of the MELAS 3243 Transition Mutation

Flierl, A., Reichmann, H., & Seibel, P. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.43.27189 · Cited by 90 · see citing works

Multilevel functional and structural defects induced by two pathogenic mitochondrial tRNA mutations

Wang, M., Zhou, X.-L., Liu, R., Fang, Z., Zhou, M., Eriani, G., & Wang, E. (2013) · Biochemical Journal · doi:10.1042/bj20130294 · Cited by 11 · see citing works