{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T07:17:56Z","timestamp":1785827876620,"version":"3.56.0"},"reference-count":26,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,10,6]],"date-time":"2017-10-06T00:00:00Z","timestamp":1507248000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2017,10,6]],"date-time":"2017-10-06T00:00:00Z","timestamp":1507248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"E-Rare Project"},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["I 2741-B26"],"award-info":[{"award-number":["I 2741-B26"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"name":"EC FP7-PEOPLE-ITN"},{"name":"Verein zur F\u00f6rderung und Forschung der P\u00e4diatrie Salzburg"},{"DOI":"10.13039\/501100006209","name":"Radboud Universitair Medisch Centrum","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006209","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1002\/humu.23340","type":"journal-article","created":{"date-parts":[[2017,9,14]],"date-time":"2017-09-14T08:06:52Z","timestamp":1505376412000},"page":"1786-1795","source":"Crossref","is-referenced-by-count":31,"title":["Biallelic variants in<i>WARS2<\/i>encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy"],"prefix":"10.1155","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1968-8103","authenticated-orcid":false,"given":"Saskia B.","family":"Wortmann","sequence":"first","affiliation":[{"name":"Department of Pediatrics; Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU); Salzburg Austria"},{"name":"Institute of Human Genetics; Helmholtz Zentrum Munich; Neuherberg Germany"},{"name":"Institute of Human Genetics; Technische Universit\u00e4t M\u00fcnchen; Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharita","family":"Timal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Radboud Center for Mitochondrial Medicine; Radboud University Medical Center; Nijmegen The Netherlands"},{"name":"Department of Neurology; Donders Center for Brain, Cognition, and Behavior, Translational Metabolic Laboratory; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanka","family":"Venselaar","sequence":"additional","affiliation":[{"name":"Center for Molecular and Biomolecular Informatics; Radboud Institute for Molecular Life Sciences; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesbeth T.","family":"Wintjes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Radboud Center for Mitochondrial Medicine; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kopajtich","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Helmholtz Zentrum Munich; Neuherberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9 G.","family":"Feichtinger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU); Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Onnekink","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Chemistry; Radboud Institute for Molecular Life Sciences; Nijmegen The Netherlands"},{"name":"Department of Biomolecular Chemistry; Institute for Molecules and Materials; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mareike","family":"M\u00fchlmeister","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Radboud Center for Mitochondrial Medicine; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Brandt","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Radboud Center for Mitochondrial Medicine; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan A.","family":"Smeitink","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Radboud Center for Mitochondrial Medicine; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris A.","family":"Veltman","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud Institute for Molecular Life Sciences; Nijmegen The Netherlands"},{"name":"Institute of Genetic Medicine, International Centre for Life; Newcastle University; Newcastle upon Tyne United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Sperl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU); Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Lefeber","sequence":"additional","affiliation":[{"name":"Department of Neurology; Donders Center for Brain, Cognition, and Behavior, Translational Metabolic Laboratory; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ger","family":"Pruijn","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Chemistry; Radboud Institute for Molecular Life Sciences; Nijmegen The Netherlands"},{"name":"Department of Biomolecular Chemistry; Institute for Molecules and Materials; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vesna","family":"Stojanovic","sequence":"additional","affiliation":[{"name":"School of Medicine; University of Novi Sad; Novi Sad Serbia"},{"name":"Institute for Child and Youth Health Care of Vojvodina; Intensive Care Unit; Novi Sad Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Freisinger","sequence":"additional","affiliation":[{"name":"Children's Hospital; Klinikum am Steinenberg; Reutlingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francjan","family":"v Spronsen","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases; Beatrix Children's Hospital; University of Groningen, University Medical Center of Groningen; Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry GJ","family":"Derks","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases; Beatrix Children's Hospital; University of Groningen, University Medical Center of Groningen; Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermine E.","family":"Veenstra-Knol","sequence":"additional","affiliation":[{"name":"Department of Genetics; University of Groningen, University Medical Center of Groningen; Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes A","family":"Mayr","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU); Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes","family":"R\u00f6tig","sequence":"additional","affiliation":[{"name":"INSERM U1163; Universit\u00e9 Paris Descartes - Sorbonne Paris Cit\u00e9; Institut Imagine; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Tarnopolsky","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Division of Neuromuscular and Neurometabolic Diseases; McMaster University Medical Center; Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Helmholtz Zentrum Munich; Neuherberg Germany"},{"name":"Institute of Human Genetics; Technische Universit\u00e4t M\u00fcnchen; Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Rodenburg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Radboud Center for Mitochondrial Medicine; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,10,6]]},"reference":[{"issue":"20","key":"10.1002\/humu.23340-BIB0001|humu23340-cit-0001","doi-asserted-by":"crossref","first-page":"2191","DOI":"10.1001\/jama.2013.281053","article-title":"World Medical Association Declaration of Helsinki: Ethical principles for medical research involving human subjects","volume":"310","author":"World Medical Association","year":"2013","journal-title":"JAMA"},{"issue":"1","key":"10.1002\/humu.23340-BIB0002|humu23340-cit-0002","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.bbadis.2013.10.008","article-title":"Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency","volume":"1842","author":"Almalki","year":"2014","journal-title":"Biochimica et Biophysica Acta"},{"issue":"12","key":"10.1002\/humu.23340-BIB0003|humu23340-cit-0003","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1038\/nbt.1511","article-title":"MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification","volume":"26","author":"Cox","year":"2008","journal-title":"Nature Biotechnology"},{"issue":"23","key":"10.1002\/humu.23340-BIB0004|humu23340-cit-0004","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1212\/WNL.0000000000000497","article-title":"Novel (ovario) leukodystrophy related to AARS2 mutations","volume":"82","author":"Dallabona","year":"2014","journal-title":"Neurology"},{"issue":"8","key":"10.1002\/humu.23340-BIB0005|humu23340-cit-0005","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1002\/humu.22590","article-title":"VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies","volume":"35","author":"Diodato","year":"2014","journal-title":"Human Mutation"},{"key":"10.1002\/humu.23340-BIB0006|humu23340-cit-0006","first-page":"1320241","article-title":"Oxidative phosphorylation system in gastric carcinomas and gastritis","volume":"2017","author":"Feichtinger","year":"2017","journal-title":"Oxidative\u00a0Medicine\u00a0and\u00a0Cellular Longevity"},{"issue":"4","key":"10.1002\/humu.23340-BIB0007|humu23340-cit-0007","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1002\/glia.22621","article-title":"Alterations of oxidative phosphorylation complexes in astrocytomas","volume":"62","author":"Feichtinger","year":"2014","journal-title":"Glia"},{"issue":"Pt 1","key":"10.1002\/humu.23340-BIB0008|humu23340-cit-0008","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1258\/000456303321016114","article-title":"Some practical aspects of providing a diagnostic service for respiratory chain defects","volume":"40","author":"Janssen","year":"2003","journal-title":"Annals of Clinical Biochemistry"},{"issue":"Pt 3","key":"10.1002\/humu.23340-BIB0009|humu23340-cit-0009","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1042\/bj20020141","article-title":"Two essential regions for tRNA recognition in Bacillus subtilis tryptophanyl-tRNA synthetase","volume":"365","author":"Jia","year":"2002","journal-title":"Biochemical Journal"},{"issue":"4","key":"10.1002\/humu.23340-BIB0010|humu23340-cit-0010","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.ymgme.2013.01.010","article-title":"Mitochondrial aminoacyl-tRNA synthetases in human disease","volume":"108","author":"Konovalova","year":"2013","journal-title":"Molecular Genetics and Metabolism"},{"issue":"2","key":"10.1002\/humu.23340-BIB0011|humu23340-cit-0011","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.ajhg.2015.12.009","article-title":"Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy","volume":"98","author":"Kremer","year":"2016","journal-title":"American Journal of Human Genetics"},{"issue":"3","key":"10.1002\/humu.23340-BIB0012|humu23340-cit-0012","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/prot.10104","article-title":"Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field","volume":"47","author":"Krieger","year":"2002","journal-title":"Proteins"},{"issue":"7616","key":"10.1002\/humu.23340-BIB0013|humu23340-cit-0013","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"issue":"6","key":"10.1002\/humu.23340-BIB0014|humu23340-cit-0014","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1002\/humu.23205","article-title":"Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability","volume":"38","author":"Musante","year":"2017","journal-title":"Human Mutation"},{"issue":"12","key":"10.1002\/humu.23340-BIB0015|humu23340-cit-0015","doi-asserted-by":"crossref","first-page":"1721","DOI":"10.1002\/humu.22450","article-title":"A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases","volume":"34","author":"Neveling","year":"2013","journal-title":"Human Mutation"},{"issue":"3","key":"10.1002\/humu.23340-BIB0016|humu23340-cit-0016","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1016\/j.ejpn.2016.02.012","article-title":"RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia","volume":"20","author":"Nishri","year":"2016","journal-title":"European Journal of Paediatric Neurology"},{"issue":"12","key":"10.1002\/humu.23340-BIB0017|humu23340-cit-0017","doi-asserted-by":"crossref","first-page":"2010","DOI":"10.1074\/mcp.T500030-MCP200","article-title":"Parts per million mass accuracy on an Orbitrap mass spectrometer via lock mass injection into a C-trap","volume":"4","author":"Olsen","year":"2005","journal-title":"Molecular and Cellular Proteomics"},{"issue":"2","key":"10.1002\/humu.23340-BIB0018|humu23340-cit-0018","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/s10545-010-9081-y","article-title":"Biochemical diagnosis of mitochondrial disorders","volume":"34","author":"Rodenburg","year":"2011","journal-title":"Journal of Inherited Metabolic Diseases"},{"issue":"1","key":"10.1002\/humu.23340-BIB0019|humu23340-cit-0019","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/0009-8981(94)90055-8","article-title":"Biochemical and molecular investigations in respiratory chain deficiencies","volume":"228","author":"Rustin","year":"1994","journal-title":"Clinica Chimica Acta"},{"issue":"1","key":"10.1002\/humu.23340-BIB0020|humu23340-cit-0020","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1038\/nprot.2006.4","volume":"1","author":"Schagger","year":"2006","journal-title":"Nature Protocols"},{"issue":"4","key":"10.1002\/humu.23340-BIB0021|humu23340-cit-0021","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":"Nature Genetics"},{"issue":"3","key":"10.1002\/humu.23340-BIB0022|humu23340-cit-0022","doi-asserted-by":"crossref","first-page":"e1005097","DOI":"10.1371\/journal.pgen.1005097","article-title":"Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome","volume":"11","author":"Simon","year":"2015","journal-title":"PLoS Genetics"},{"key":"10.1002\/humu.23340-BIB0023|humu23340-cit-0023","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.38339","article-title":"Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy","author":"Theisen","year":"2017","journal-title":"American Journal of Medical Genetics"},{"issue":"2","key":"10.1002\/humu.23340-BIB0024|humu23340-cit-0024","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1002\/humu.22728","article-title":"Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)","volume":"36","author":"Vanlander","year":"2015","journal-title":"Human Mutation"},{"issue":"1","key":"10.1002\/humu.23340-BIB0025|humu23340-cit-0025","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/0263-7855(90)80070-V","article-title":"WHAT IF: A molecular modeling and drug design program","volume":"8","author":"Vriend","year":"1990","journal-title":"Journal of Molecular Graphics"},{"issue":"3","key":"10.1002\/humu.23340-BIB0026|humu23340-cit-0026","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/s10545-015-9823-y","article-title":"Whole exome sequencing of suspected mitochondrial patients in clinical practice","volume":"38","author":"Wortmann","year":"2015","journal-title":"Journal of Inherited Metabolic Disease"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23340","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.23340","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:55Z","timestamp":1672332895000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23340"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,6]]},"references-count":26,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2017,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23340","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2017,10,6]]}}}