A. Antonellis and E. Green, The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases, Annual Review of Genomics and Human Genetics, vol.9, issue.1, pp.87-107, 2008.
DOI : 10.1146/annurev.genom.9.081307.164204

V. Bayat, I. Thiffault, M. Jaiswal, M. Donti, T. Sasarman et al., Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans, PLoS Biology, vol.8, issue.3, p.10011288, 2012.
DOI : 10.1371/journal.pbio.1001288.s014

R. Belostotsky, E. Ben-shalom, C. Rinat, R. Becker-cohen, S. Feinstein et al., Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome, The American Journal of Human Genetics, vol.88, issue.2, pp.193-200, 2011.
DOI : 10.1016/j.ajhg.2010.12.010

H. Berman, J. Westbrook, Z. Feng, G. Gilliland, T. Bhat et al., The Protein Data Bank, Nucleic Acids Research, vol.28, issue.1, pp.235-242, 2000.
DOI : 10.1093/nar/28.1.235

N. Bolender, A. Sickmann, R. Wagner, C. Meisinger, and N. Pfanner, Multiple pathways for sorting mitochondrial precursor proteins, EMBO reports, vol.9, issue.1, pp.42-49, 2008.
DOI : 10.1083/jcb.200308012

J. Bullard, Y. Cai, and L. Spremulli, Expression and characterization of the human mitochondrial leucyl-tRNA synthetase, Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression, vol.1490, issue.3, pp.245-258, 2000.
DOI : 10.1016/S0167-4781(99)00240-7

V. Carelli, L. Vergani, B. Bernazzi, C. Zampieron, L. Bucchi et al., Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1588, issue.1, pp.7-14, 2002.
DOI : 10.1016/S0925-4439(02)00097-2

S. Cusack, M. Leberman, and R. , Sequence, structural and evolutionary relationships between class 2 aminoacyl-tRNA synthetases, Nucleic Acids Research, vol.19, issue.13, pp.3489-3498, 1991.
DOI : 10.1093/nar/19.13.3489

D. Luca, C. Besagni, C. Frontali, L. Bolotin-fukuhara, M. Francisci et al., Mutations in yeast mt tRNAs: Specific and general suppression by nuclear encoded tRNA interactors, Gene, vol.377, pp.169-176, 2006.
DOI : 10.1016/j.gene.2006.04.003

D. Luca, C. Zhou, Y. Montanari, A. Morea, V. Oliva et al., Can yeast be used to study mitochondrial diseases? Biolistic tRNA mutants for the analysis of mechanisms and suppressors, Mitochondrion, vol.9, issue.6, pp.408-417, 2009.
DOI : 10.1016/j.mito.2009.07.004
URL : https://hal.archives-ouvertes.fr/hal-00408939

M. Delarue and D. Moras, The aminoacyl-tRNA synthetase family: Modules at work, BioEssays, vol.91, issue.10, pp.675-687, 1993.
DOI : 10.1002/bies.950151007

D. Meo, I. Auricchio, A. Lamperti, C. Burlina, A. Viscomi et al., Effective AAV-mediated gene therapy in a mouse model of ethilmalonic encephalopathy, EMBO Mol Med, vol.4, pp.1-7, 2012.

S. Edvardson, A. Shaag, O. Kolesnikova, J. Gomori, I. Tarassov et al., Deleterious Mutation in the Mitochondrial Arginyl???Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia, The American Journal of Human Genetics, vol.81, issue.4, pp.857-862, 2007.
DOI : 10.1086/521227

J. Elo, S. Yadavalli, L. Euro, P. Isohanni, A. G?-otz et al., Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy, Human Molecular Genetics, vol.21, issue.20, pp.4521-4529, 2012.
DOI : 10.1093/hmg/dds294
URL : http://hmg.oxfordjournals.org/cgi/content/short/21/20/4521

S. Francisci, A. Montanari, D. Luca, C. Frontali, and L. , Peptides from aminoacyl-tRNA synthetases can cure the defects due to mutations in mt tRNA genes, Mitochondrion, vol.11, issue.6, pp.919-923, 2011.
DOI : 10.1016/j.mito.2011.08.006

A. Ghelli, A. Porcelli, C. Zanna, S. Vidoni, S. Mattioli et al., The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity, PLoS ONE, vol.4, issue.11, pp.7922-635, 2009.
DOI : 10.1371/journal.pone.0007922.t001

J. Hsu and S. Martinis, A Flexible Peptide Tether Controls Accessibility of a Unique C-terminal RNA-binding Domain in Leucyl-tRNA Synthetases, Journal of Molecular Biology, vol.376, issue.2, pp.482-491, 2008.
DOI : 10.1016/j.jmb.2007.11.065

Q. Hu, Q. Huang, and E. Wang, Crucial role of the C-terminal domain of Mycobacterium tuberculosis leucyl-tRNA synthetase in aminoacylation and editing, Nucleic Acids Research, vol.41, issue.3, pp.1859-1872, 2013.
DOI : 10.1093/nar/gks1307

M. Ibba and D. Soll, Aminoacyl-tRNA Synthesis, Annual Review of Biochemistry, vol.69, issue.1, pp.617-650, 2000.
DOI : 10.1146/annurev.biochem.69.1.617

F. Invernizzi, D. Amato, P. Ravaglia, S. Zeviani, M. Tiranti et al., Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells, Mitochondrion, vol.12, issue.2, pp.328-335, 2012.
DOI : 10.1016/j.mito.2012.01.001

P. Kaufmann, K. Engelstad, B. Wei, R. Kulikova, M. Oskoui et al., Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype, Neurology, vol.77, issue.22, pp.1965-1971, 2011.
DOI : 10.1212/WNL.0b013e31823a0c7f

M. King, Y. Koga, M. Davidson, and E. Schon, 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., Molecular and Cellular Biology, vol.12, issue.2, pp.480-490, 1992.
DOI : 10.1128/MCB.12.2.480

G. Li, C. Herbert, M. Labouesse, and P. Slonimski, In vitro mutagenesis of the mitochondrial leucyl-tRNA synthetase of S. cerevisiae reveals residues critical for its in vivo activities, Current Genetics, vol.13, issue.1, pp.69-74, 1992.
DOI : 10.1007/BF00351744

M. Li, Z. Zhong, J. Zhu, D. Xiang, N. Dai et al., Identification and Characterization of Mitochondrial Targeting Sequence of Human Apurinic/Apyrimidinic Endonuclease 1, Journal of Biological Chemistry, vol.285, issue.20, pp.14871-14881, 2010.
DOI : 10.1074/jbc.M109.069591

R. Li and M. Guan, Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNALeu(UUR) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes, Molecular and Cellular Biology, vol.30, issue.9, pp.2147-2154, 2010.
DOI : 10.1128/MCB.01614-09

S. Martinis and M. Boniecki, The balance between pre- and post-transfer editing in tRNA synthetases, FEBS Letters, vol.124, issue.2, pp.455-459, 2010.
DOI : 10.1016/j.febslet.2009.11.071

M. Messmer, C. Florentz, H. Schwenzer, G. Scheper, and M. Van-der-knaap, A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria, Biochemical Journal, vol.57, issue.3, pp.441-446, 2011.
DOI : 10.1097/00008571-200303000-00004
URL : https://hal.archives-ouvertes.fr/hal-00558103

A. Montanari, D. Luca, C. Frontali, L. Francisci, and S. , Aminoacyl-tRNA synthetases are multivalent suppressors of defects due to human equivalent mutations in yeast mt tRNA genes, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, vol.1803, issue.9, pp.1050-1057, 2010.
DOI : 10.1016/j.bbamcr.2010.05.003

A. Nathwani, E. Tuddenham, S. Rangarajan, C. Rosales, J. Mcintosh et al., Adenovirus-Associated Virus Vector???Mediated Gene Transfer in Hemophilia B, New England Journal of Medicine, vol.365, issue.25, pp.2357-2365, 2011.
DOI : 10.1056/NEJMoa1108046

W. Neupert and J. Hermann, Translocation of Proteins into Mitochondria, Annual Review of Biochemistry, vol.76, issue.1, pp.723-749, 2007.
DOI : 10.1146/annurev.biochem.76.052705.163409

A. Palencia, T. Cr-epin, M. Vu, T. Lincecum, . Jr et al., Structural dynamics of the aminoacylation and proofreading functional cycle of bacterial leucyl-tRNA synthetase, Nature Structural & Molecular Biology, vol.19, issue.7, pp.677-684, 2012.
DOI : 10.1016/S1097-2765(03)00098-4

H. Park, E. Davison, and M. King, Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNALeu(UUR) gene, RNA, vol.14, issue.11, pp.2407-2416, 2008.
DOI : 10.1261/rna.1208808

R. Pello, M. Mart-in, V. Carelli, L. Nijtmans, A. Achilli et al., Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease, Human Molecular Genetics, vol.17, issue.24, pp.4001-4011, 2008.
DOI : 10.1093/hmg/ddn303

E. Perli, C. Giordano, H. Tuppen, M. Montopoli, A. Montanari et al., Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m, 2012.

J. Perona, M. Rould, and T. Steitz, Structural basis for transfer RNA aminoacylation by Escherichia coli glutaminyl-tRNA synthetase, Biochemistry, vol.32, issue.34, pp.8758-8771, 1993.
DOI : 10.1021/bi00085a006

V. Petruzzella, V. Tiranti, P. Fernandez, P. Ianna, R. Carrozzo et al., Identification and Characterization of Human cDNAs Specific to BCS1, PET112, SCO1, COX15, and COX11, Five Genes Involved in the Formation and Function of the Mitochondrial Respiratory Chain, Genomics, vol.54, issue.3, pp.494-504, 1998.
DOI : 10.1006/geno.1998.5580

A. Reyes, J. He, C. Mao, L. Bailey, D. Re et al., Actin and myosin contribute to mammalian mitochondrial DNA maintenance, Nucleic Acids Research, vol.39, issue.12, pp.5098-5108, 2011.
DOI : 10.1093/nar/gkr052

L. Riley, S. Cooper, P. Hickey, J. Rudinger-thirion, M. Mckenzie et al., Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia???MLASA Syndrome, The American Journal of Human Genetics, vol.87, issue.1, pp.52-59, 2010.
DOI : 10.1016/j.ajhg.2010.06.001
URL : https://hal.archives-ouvertes.fr/hal-00530056

J. Rorbach, A. Yusoff, H. Tuppen, D. Abg-kamaludin, Z. Chrzanowska-lightowlers et al., Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation, Nucleic Acids Research, vol.36, issue.9, pp.3065-3074, 2008.
DOI : 10.1093/nar/gkn147

J. Sambrook, E. Fritsch, T. Maniatis, G. Scheper, T. Van-der-klok et al., Molecular cloning: A laboratory manual Cold Spring Harbour Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, Nature Genet, vol.39, pp.534-539, 1989.

P. Schimmel, Classes of aminoacyl-tRNA synthetases and the establishment of the genetic code, Trends in Biochemical Sciences, vol.16, pp.1-3, 1991.
DOI : 10.1016/0968-0004(91)90002-D

M. Selmer, C. Dunham, F. Murphy, A. Weixlbaumer, S. Petry et al., Structure of the 70S Ribosome Complexed with mRNA and tRNA, Science, vol.313, issue.5795, pp.1935-1942, 2006.
DOI : 10.1126/science.1131127

M. Steenweg, D. Ghezzi, T. Haack, T. Abbink, D. Martinelli et al., Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations, Brain, vol.135, issue.5, pp.1387-1394, 2012.
DOI : 10.1093/brain/aws070
URL : http://doi.org/10.1093/brain/aws070

T. Suzuki, A. Nagao, and T. Suzuki, Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases, Annual Review of Genetics, vol.45, issue.1, pp.299-329, 2011.
DOI : 10.1146/annurev-genet-110410-132531

R. Taylor, C. Giordano, M. Davidson, G. Amati, H. Bain et al., A homoplasmic mitochondrial transfer Ribonucleic Acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy, Journal of the American College of Cardiology, vol.41, issue.10, pp.1786-1796, 2003.
DOI : 10.1016/S0735-1097(03)00300-0

M. Tukalo, A. Yaremchuk, R. Fukunaga, S. Yokoyama, and S. Cusack, The crystal structure of leucyl-tRNA synthetase complexed with tRNALeu in the post-transfer???editing conformation, Nature Structural & Molecular Biology, vol.50, issue.10, pp.923-930, 2005.
DOI : 10.1107/S0907444994006396

B. Westermann and W. Neupert, Mitochondria???targeted green fluorescent proteins: convenient tools for the study of organelle biogenesis in Saccharomyces cerevisiae, Yeast, vol.16, issue.15, pp.1421-1427, 2000.
DOI : 10.1002/1097-0061(200011)16:15<1421::AID-YEA624>3.3.CO;2-L

W. Zagorski, B. Castaing, C. Herbert, M. Labouesse, R. Martin et al., Purification and characterization of the Saccharomyces cerevisiae mitochondrial leucyl-tRNA synthetase, J Biol Chem, vol.266, pp.2537-2541, 1991.