{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T14:51:33Z","timestamp":1790175093412,"version":"4.1.0"},"reference-count":23,"publisher":"Hindawi Limited","issue":"2","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"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2016,2]]},"DOI":"10.1002\/humu.22930","type":"journal-article","created":{"date-parts":[[2015,11,10]],"date-time":"2015-11-10T09:39:52Z","timestamp":1447148392000},"page":"165-169","source":"Crossref","is-referenced-by-count":53,"title":["A Newly Identified Missense Mutation in<i>FARS2<\/i>Causes Autosomal-Recessive Spastic Paraplegia"],"prefix":"10.1155","volume":"37","author":[{"given":"Ying","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology; Xi'an Shaanxi 710032 China"},{"name":"Center for DNA Typing; Xi'an Shaanxi 710032 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of physiotherapy; Xijing Hospital; Fourth Military Medical University; Xi'an Shaanxi 710032 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhipeng","family":"Fang","sequence":"additional","affiliation":[{"name":"Center for RNA Research; State Key Laboratory of Molecular Biology; Institute of Biochemistry and Cell Biology; Shanghai Institutes for Biological Sciences; The Chinese Academy of Sciences; Shanghai 710031 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Anatomy; Histology and Embryology & K.K. Leung Brain Research Centre; Preclinical School of Medicine; Fourth Military Medical University; Xi'an Shaanxi 200032 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengyu","family":"Che","sequence":"additional","affiliation":[{"name":"Center for DNA Typing; Xi'an Shaanxi 710032 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunxia","family":"He","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology; Xi'an Shaanxi 710032 China"},{"name":"Center for DNA Typing; Xi'an Shaanxi 710032 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Libo","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology; Xi'an Shaanxi 710032 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enduo","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for RNA Research; State Key Laboratory of Molecular Biology; Institute of Biochemistry and Cell Biology; Shanghai Institutes for Biological Sciences; The Chinese Academy of Sciences; Shanghai 710031 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanming","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology; Xi'an Shaanxi 710032 China"},{"name":"Center for DNA Typing; Xi'an Shaanxi 710032 China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2015,12,10]]},"reference":[{"key":"10.1002\/humu.22930-BIB0001|humu22930-cit-0001","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"},{"issue":"1-2","key":"10.1002\/humu.22930-BIB0002|humu22930-cit-0002","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.jns.2014.09.046","article-title":"A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother","volume":"347","author":"Aulitzky","year":"2014","journal-title":"J Neurol Sci"},{"key":"10.1002\/humu.22930-BIB0003|humu22930-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.22930-BIB0004|humu22930-cit-0004","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/nrn2990","article-title":"Hereditary spastic paraplegias: membrane traffic and the motor pathway","volume":"12","author":"Blackstone","year":"2011","journal-title":"Nat Rev Neurosci"},{"key":"10.1002\/humu.22930-BIB0005|humu22930-cit-0005","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.22930-BIB0006|humu22930-cit-0006","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.22930-BIB0007|humu22930-cit-0007","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.ajhg.2013.12.005","article-title":"Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia","volume":"94","author":"Esteves","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22930-BIB0008|humu22930-cit-0008","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s00401-013-1115-8","article-title":"Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms","volume":"126","author":"Fink","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1002\/humu.22930-BIB0009|humu22930-cit-0009","doi-asserted-by":"crossref","first-page":"e1003988","DOI":"10.1371\/journal.pgen.1003988","article-title":"A hereditary spastic paraplegia mouse model supports a role of ZFYVE26\/SPASTIZIN for the endolysosomal system","volume":"9","author":"Khundadze","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.22930-BIB0010|humu22930-cit-0010","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1016\/j.str.2008.03.020","article-title":"The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase","volume":"16","author":"Klipcan","year":"2008","journal-title":"Structure"},{"key":"10.1002\/humu.22930-BIB0011|humu22930-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"},{"issue":"7107","key":"10.1002\/humu.22930-BIB0012|humu22930-cit-0012","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1038\/nature05096","article-title":"Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration","volume":"443","author":"Lee","year":"2006","journal-title":"Nature"},{"key":"10.1002\/humu.22930-BIB0013|humu22930-cit-0013","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.expneurol.2014.06.011","article-title":"Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms","volume":"261","author":"Lo Giudice","year":"2014","journal-title":"Exp Neurol"},{"key":"10.1002\/humu.22930-BIB0014|humu22930-cit-0014","doi-asserted-by":"crossref","first-page":"9244","DOI":"10.1523\/JNEUROSCI.1532-09.2009","article-title":"Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration","volume":"29","author":"Maltecca","year":"2009","journal-title":"J Neurosci"},{"issue":"6170","key":"10.1002\/humu.22930-BIB0015|humu22930-cit-0015","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1126\/science.1247363","article-title":"Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders","volume":"343","author":"Novarino","year":"2014","journal-title":"Science"},{"key":"10.1002\/humu.22930-BIB0016|humu22930-cit-0016","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-MLASA syndrome","volume":"87","author":"Riley","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22930-BIB0017|humu22930-cit-0017","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1001\/jamaneurol.2014.4769","article-title":"Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia","volume":"72","author":"Rinaldi","year":"2015","journal-title":"JAMA Neurol"},{"key":"10.1002\/humu.22930-BIB0018|humu22930-cit-0018","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1159\/000358801","article-title":"The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies","volume":"42","author":"Ruano","year":"2014","journal-title":"Neuroepidemiology"},{"key":"10.1002\/humu.22930-BIB0019|humu22930-cit-0019","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/1471-2202-11-55","article-title":"Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease","volume":"11","author":"Sacco","year":"2010","journal-title":"BMC Neurosci"},{"key":"10.1002\/humu.22930-BIB0020|humu22930-cit-0020","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/S1474-4422(08)70258-8","article-title":"Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms","volume":"7","author":"Salinas","year":"2008","journal-title":"Lancet Neurol"},{"key":"10.1002\/humu.22930-BIB0021|humu22930-cit-0021","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.aanat.2008.11.003","article-title":"Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP)","volume":"191","author":"Seidel","year":"2009","journal-title":"Ann Anat"},{"issue":"Pt 5","key":"10.1002\/humu.22930-BIB0022|humu22930-cit-0022","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":"10.1002\/humu.22930-BIB0023|humu22930-cit-0023","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"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22930","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22930\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:55Z","timestamp":1672332835000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22930"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,10]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22930","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2015,12,10]]}}}