{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T05:39:36Z","timestamp":1790228376133,"version":"4.1.0"},"reference-count":23,"publisher":"Hindawi Limited","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100007797","name":"University of Helsinki","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007797","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9lius Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1002\/humu.23021","type":"journal-article","created":{"date-parts":[[2016,6,9]],"date-time":"2016-06-09T09:40:25Z","timestamp":1465465225000},"page":"884-888","source":"Crossref","is-referenced-by-count":29,"title":["Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome"],"prefix":"10.1155","volume":"37","author":[{"given":"Tarja","family":"Linnankivi","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology; Children's Hospital; University of Helsinki and Helsinki University Hospital; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nirajan","family":"Neupane","sequence":"additional","affiliation":[{"name":"Research Programs Unit; Molecular Neurology; Biomedicum Helsinki; University of Helsinki; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Richter","sequence":"additional","affiliation":[{"name":"Research Programs Unit; Molecular Neurology; Biomedicum Helsinki; University of Helsinki; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pirjo","family":"Isohanni","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology; Children's Hospital; University of Helsinki and Helsinki University Hospital; Helsinki Finland"},{"name":"Research Programs Unit; Molecular Neurology; Biomedicum Helsinki; University of Helsinki; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henna","family":"Tyynismaa","sequence":"additional","affiliation":[{"name":"Research Programs Unit; Molecular Neurology; Biomedicum Helsinki; University of Helsinki; Helsinki Finland"},{"name":"Department of Medical and Clinical Genetics; University of Helsinki; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2016,6,27]]},"reference":[{"key":"10.1002\/humu.23021-BIB0001|humu23021-cit-0001","doi-asserted-by":"crossref","first-page":"158","DOI":"10.3389\/fgene.2014.00158","article-title":"Transfer RNA and human disease","volume":"5","author":"Abbott","year":"2014","journal-title":"Front Genet"},{"key":"10.1002\/humu.23021-BIB0002|humu23021-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":"Biochim Biophys Acta"},{"key":"10.1002\/humu.23021-BIB0003|humu23021-cit-0003","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":"10.1002\/humu.23021-BIB0004|humu23021-cit-0004","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":"10.1002\/humu.23021-BIB0005|humu23021-cit-0005","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"},{"key":"10.1002\/humu.23021-BIB0006|humu23021-cit-0006","doi-asserted-by":"crossref","first-page":"787956","DOI":"10.1155\/2014\/787956","article-title":"The mitochondrial aminoacyl tRNA synthetases: genes and syndromes","volume":"2014","author":"Diodato","year":"2014","journal-title":"Int J Cell Biol"},{"key":"10.1002\/humu.23021-BIB0007|humu23021-cit-0007","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":"10.1002\/humu.23021-BIB0008|humu23021-cit-0008","doi-asserted-by":"crossref","first-page":"21","DOI":"10.3389\/fgene.2015.00021","article-title":"Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation","volume":"6","author":"Euro","year":"2015","journal-title":"Front Genet"},{"key":"10.1002\/humu.23021-BIB0009|humu23021-cit-0009","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":"Gotz","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.23021-BIB0010|humu23021-cit-0010","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.cmet.2014.07.001","article-title":"Making proteins in the powerhouse","volume":"20","author":"Hallberg","year":"2014","journal-title":"Cell Metab"},{"key":"10.1002\/humu.23021-BIB0011|humu23021-cit-0011","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":"Mol Genet Metab"},{"key":"10.1002\/humu.23021-BIB0012|humu23021-cit-0012","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":"10.1002\/humu.23021-BIB0013|humu23021-cit-0013","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1186\/1471-2369-14-195","article-title":"A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome","volume":"14","author":"Rivera","year":"2013","journal-title":"BMC Nephrol"},{"key":"10.1002\/humu.23021-BIB0014|humu23021-cit-0014","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1093\/hmg\/ddv044","article-title":"The 3\u2032 addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1","volume":"24","author":"Sasarman","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.23021-BIB0015|humu23021-cit-0015","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":"10.1002\/humu.23021-BIB0016|humu23021-cit-0016","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/128_2013_457","article-title":"Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases","volume":"344","author":"Schwenzer","year":"2014","journal-title":"Top Curr Chem"},{"key":"10.1002\/humu.23021-BIB0017|humu23021-cit-0017","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1016\/0022-2836(94)90004-3","article-title":"Fitting the structurally diverse animal mitochondrial tRNAs(Ser) to common three-dimensional constraints","volume":"236","author":"Steinberg","year":"1994","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.23021-BIB0018|humu23021-cit-0018","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1016\/j.ajhg.2013.04.006","article-title":"Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity","volume":"92","author":"Taft","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.23021-BIB0019|humu23021-cit-0019","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1038\/ejhg.2012.44","article-title":"Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy","volume":"20","author":"Tuppen","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.23021-BIB0020|humu23021-cit-0020","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":"Berge","year":"2012","journal-title":"Biochem J"},{"key":"10.1002\/humu.23021-BIB0021|humu23021-cit-0021","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1002\/ajmg.a.36993","article-title":"Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings","volume":"167A","author":"Vernon","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.23021-BIB0022|humu23021-cit-0022","article-title":"A newly identified missense mutation in FARS2 causes autosomal recessive spastic paraplegia","author":"Yang","year":"2015","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.23021-BIB0023|humu23021-cit-0023","doi-asserted-by":"crossref","first-page":"19913","DOI":"10.1074\/jbc.M908473199","article-title":"Characterization and tRNA recognition of mammalian mitochondrial seryl-tRNA synthetase","volume":"275","author":"Yokogawa","year":"2000","journal-title":"J Biol Chem"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23021","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.23021","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:30Z","timestamp":1672332870000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23021"}},"subtitle":["HUMAN MUTATION"],"short-title":[],"issued":{"date-parts":[[2016,6,27]]},"references-count":23,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23021","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2016,6,27]]}}}