{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T14:54:00Z","timestamp":1793717640432,"version":"4.6.1"},"reference-count":38,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2013,4,1]],"date-time":"2013-04-01T00:00:00Z","timestamp":1364774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2013,4]]},"DOI":"10.1016\/j.ymgme.2013.01.010","type":"journal-article","created":{"date-parts":[[2013,1,25]],"date-time":"2013-01-25T22:36:00Z","timestamp":1359153360000},"page":"206-211","source":"Crossref","is-referenced-by-count":150,"title":["Mitochondrial aminoacyl-tRNA synthetases in human disease"],"prefix":"10.1016","volume":"108","author":[{"given":"Svetlana","family":"Konovalova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henna","family":"Tyynismaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2013.01.010_bb0005","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1016\/j.bbagrm.2011.11.009","article-title":"Mechanism of protein biosynthesis in mammalian mitochondria","volume":"1819","author":"Christian","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2013.01.010_bb0010","doi-asserted-by":"crossref","first-page":"11","DOI":"10.2183\/pjab.86.11","article-title":"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","volume":"86","author":"Watanabe","year":"2010","journal-title":"Proc. Jpn. Acad. Ser. B Phys. Biol. Sci."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0015","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1146\/annurev.biochem.69.1.617","article-title":"Aminoacyl-tRNA synthesis","volume":"69","author":"Ibba","year":"2000","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0020","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1146\/annurev.micro.091208.073210","article-title":"Aminoacyl-tRNA synthesis and translational quality control","volume":"63","author":"Ling","year":"2009","journal-title":"Annu. Rev. Microbiol."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0025","doi-asserted-by":"crossref","first-page":"16209","DOI":"10.1073\/pnas.0907602106","article-title":"Biogenesis of glutaminyl-mt tRNAGln in human mitochondria","volume":"106","author":"Nagao","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0030","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1016\/j.cell.2012.02.035","article-title":"Mitochondria: in sickness and in health","volume":"148","author":"Nunnari","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.ymgme.2013.01.010_bb0035","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/ng2013","article-title":"Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation","volume":"39","author":"Scheper","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0040","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1136\/jmg.2009.068221","article-title":"DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis","volume":"47","author":"Isohanni","year":"2010","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0045","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1042\/BJ20110795","article-title":"Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell type-dependent splicing of mtAspRS mRNA","volume":"441","author":"van Berge","year":"2012","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0050","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1111\/j.1399-0004.2011.01644.x","article-title":"A novel homozygous mutation of DARS2 may cause a severe LBSL variant","volume":"80","author":"Miyake","year":"2011","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0055","doi-asserted-by":"crossref","unstructured":"S. Yamashita, N. Miyake, N. Matsumoto, H. Osaka, M. Iai, N. Aida, Y. Tanaka, Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2, Brain Dev. (in press), http:\/\/dx.doi.org\/10.1016\/j.braindev.2012.05.007.","DOI":"10.1016\/j.braindev.2012.05.007"},{"key":"10.1016\/j.ymgme.2013.01.010_bb0060","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1136\/jmg.2011.090282","article-title":"Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation","volume":"48","author":"Synofzik","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0065","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1086\/521227","article-title":"Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia","volume":"81","author":"Edvardson","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0070","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s10545-012-9487-9","article-title":"Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients","volume":"36","author":"Cassandrini","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0075","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1093\/brain\/aws070","article-title":"Leukoencephalopathy with thalamus and brainstem involvement and high lactate \u2018LTBL\u2019 caused by EARS2 mutations","volume":"135","author":"Steenweg","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2013.01.010_bb0080","doi-asserted-by":"crossref","unstructured":"B. Talim, A. Pyle, H. Griffin, H. Topaloglu, A. Tokatli, M.J. Keogh, M. Santibanez-Koref, P.F. Chinnery, R.Horvath,Multisystemfatal infantile disease caused by a novel homozygous EARS2 mutation, Brain (in press) (http:\/\/brain.oxfordjournals.org\/content\/early\/2012\/09\/24\/brain.aws197.long).","DOI":"10.1093\/brain\/aws197"},{"key":"10.1016\/j.ymgme.2013.01.010_bb0085","doi-asserted-by":"crossref","first-page":"e1001288","DOI":"10.1371\/journal.pbio.1001288","article-title":"Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans","volume":"10","author":"Bayat","year":"2012","journal-title":"PLoS Biol."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0090","doi-asserted-by":"crossref","first-page":"2332","DOI":"10.1093\/brain\/awl110","article-title":"A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34","volume":"129","author":"Thiffault","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2013.01.010_bb0095","doi-asserted-by":"crossref","first-page":"4521","DOI":"10.1093\/hmg\/dds294","article-title":"Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy","volume":"21","author":"Elo","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0100","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.ajhg.2010.06.001","article-title":"Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia\u2013MLASA syndrome","volume":"87","author":"Riley","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0105","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1002\/humu.22098","article-title":"A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia","volume":"33","author":"Sasarman","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0110","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1086\/421530","article-title":"Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)","volume":"74","author":"Bykhovskaya","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0115","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ajhg.2010.12.010","article-title":"Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome","volume":"88","author":"Belostotsky","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0120","doi-asserted-by":"crossref","first-page":"3369","DOI":"10.1038\/sj.emboj.7600811","article-title":"Dual-mode recognition of noncanonical tRNAs(Ser) by seryl-tRNA synthetase in mammalian mitochondria","volume":"24","author":"Chimnaronk","year":"2005","journal-title":"EMBO J."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0125","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/j.ajhg.2011.04.006","article-title":"Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy","volume":"88","author":"G\u00f6tz","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0130","doi-asserted-by":"crossref","first-page":"118ra10","DOI":"10.1126\/scitranslmed.3003310","article-title":"Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing","volume":"4","author":"Calvo","year":"2012","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0135","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1038\/nature08612","article-title":"Paradox of mistranslation of serine for alanine caused by AlaRS recognition dilemma","volume":"462","author":"Guo","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.ymgme.2013.01.010_bb0140","doi-asserted-by":"crossref","first-page":"6543","DOI":"10.1073\/pnas.1103471108","article-title":"Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome","volume":"108","author":"Pierce","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0145","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1086\/375039","article-title":"Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V","volume":"72","author":"Antonellis","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0150","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/j.ajhg.2010.09.008","article-title":"Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy","volume":"87","author":"McLaughlin","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0155","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/ng1727","article-title":"Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy","volume":"38","author":"Jordanova","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0160","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.ajhg.2009.12.005","article-title":"A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease","volume":"86","author":"Latour","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0165","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/humu.22210","article-title":"A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo","volume":"34","author":"Vester","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0170","doi-asserted-by":"crossref","first-page":"e1002399","DOI":"10.1371\/journal.pgen.1002399","article-title":"Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels","volume":"7","author":"Motley","year":"2011","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0175","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1242\/dmm.002527","article-title":"An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy","volume":"2","author":"Achilli","year":"2009","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0180","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1038\/nrm2956","article-title":"New functions of aminoacyl-tRNA synthetases beyond translation","volume":"11","author":"Guo","year":"2010","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0185","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1038\/ncomms1686","article-title":"Unique domain appended to vertebrate tRNA synthetase is essential for vascular development","volume":"3","author":"Xu","year":"2012","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ymgme.2013.01.010_bb0190","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/0304-4165(94)90009-4","article-title":"The multienzyme complex containing nine aminoacyl-tRNA synthetases is ubiquitous from Drosophila to mammals","volume":"1199","author":"Kerjan","year":"1994","journal-title":"Biochim. Biophys. Acta"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719213000322?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719213000322?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,8]],"date-time":"2019-07-08T18:46:20Z","timestamp":1562611580000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719213000322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4]]},"references-count":38,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["S1096719213000322"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2013.01.010","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2013,4]]}}}