{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T00:39:08Z","timestamp":1792802348839,"version":"4.5.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"content-version":"vor","delay-in-days":181,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1016\/j.ajhg.2016.06.020","type":"journal-article","created":{"date-parts":[[2016,8,22]],"date-time":"2016-08-22T19:02:01Z","timestamp":1471892521000},"page":"683-694","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":119,"title":["Biallelic Variants in UBA5 Link Dysfunctional UFM1\u00a0Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy"],"prefix":"10.1016","volume":"99","author":[{"given":"Mikko","family":"Muona","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryosuke","family":"Ishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anni","family":"Laari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinobu","family":"Ichimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarja","family":"Linnankivi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riikka","family":"Keski-Filppula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riitta","family":"Herva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heikki","family":"Rantala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders","family":"Paetau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna","family":"P\u00f6yh\u00f6nen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miki","family":"Obata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takefumi","family":"Uemura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Karhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norihisa","family":"Bizen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirohide","family":"Takebayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shane","family":"McKee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael\u00a0J.","family":"Parker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Akawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"McRae","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew\u00a0E.","family":"Hurles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Outi","family":"Kuismin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitja\u00a0I.","family":"Kurki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Kaisa","family":"Anttonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiji","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aarno","family":"Palotie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Waguri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Elina","family":"Lehesjoki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaaki","family":"Komatsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2016.06.020_bib1","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1146\/annurev-biochem-093010-153308","article-title":"Ubiquitin-like proteins","volume":"81","author":"van der Veen","year":"2012","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.ajhg.2016.06.020_bib2","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/nrm2673","article-title":"Ubiquitin-like protein activation by E1 enzymes: the apex for downstream signalling pathways","volume":"10","author":"Schulman","year":"2009","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2016.06.020_bib3","doi-asserted-by":"crossref","first-page":"5256","DOI":"10.1074\/jbc.M610590200","article-title":"Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2","volume":"282","author":"Kang","year":"2007","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.020_bib4","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1038\/sj.emboj.7600205","article-title":"A novel protein-conjugating system for Ufm1, a ubiquitin-fold modifier","volume":"23","author":"Komatsu","year":"2004","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2016.06.020_bib5","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.molcel.2014.08.007","article-title":"Modification of ASC1 by UFM1 is crucial for ER\u03b1 transactivation and breast cancer development","volume":"56","author":"Yoo","year":"2014","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2016.06.020_bib6","doi-asserted-by":"crossref","first-page":"5417","DOI":"10.1074\/jbc.M109.036814","article-title":"A novel type of E3 ligase for the Ufm1 conjugation system","volume":"285","author":"Tatsumi","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.020_bib7","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1038\/ncomms1182","article-title":"The Ufm1-activating enzyme Uba5 is indispensable for erythroid differentiation in mice","volume":"2","author":"Tatsumi","year":"2011","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2016.06.020_bib8","doi-asserted-by":"crossref","first-page":"e1005643","DOI":"10.1371\/journal.pgen.1005643","article-title":"UFBP1, a key component of the Ufm1 conjugation system, is essential for ufmylation-mediated regulation of erythroid development","volume":"11","author":"Cai","year":"2015","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2016.06.020_bib9","doi-asserted-by":"crossref","first-page":"10661","DOI":"10.1074\/jbc.M113.458000","article-title":"The ubiquitin-fold modifier 1 (Ufm1) cascade of Caenorhabditis elegans","volume":"288","author":"Hertel","year":"2013","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.020_bib10","doi-asserted-by":"crossref","first-page":"e18517","DOI":"10.1371\/journal.pone.0018517","article-title":"Ubiquitin fold modifier 1 (UFM1) and its target UFBP1 protect pancreatic beta cells from ER stress-induced apoptosis","volume":"6","author":"Lemaire","year":"2011","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2016.06.020_bib11","doi-asserted-by":"crossref","first-page":"e48587","DOI":"10.1371\/journal.pone.0048587","article-title":"Transcriptional regulation of the Ufm1 conjugation system in response to disturbance of the endoplasmic reticulum homeostasis and inhibition of vesicle trafficking","volume":"7","author":"Zhang","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2016.06.020_bib12","doi-asserted-by":"crossref","first-page":"627","DOI":"10.3390\/cells3020627","article-title":"The ufm1 cascade","volume":"3","author":"Daniel","year":"2014","journal-title":"Cells"},{"key":"10.1016\/j.ajhg.2016.06.020_bib13","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2016.06.020_bib14","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"10.1016\/j.ajhg.2016.06.020_bib15","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.06.020_bib16","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1038\/ng.3144","article-title":"A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy","volume":"47","author":"Muona","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.06.020_bib17","doi-asserted-by":"crossref","first-page":"2069","DOI":"10.1093\/bioinformatics\/btq330","article-title":"Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor","volume":"26","author":"McLaren","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2016.06.020_bib18","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1038\/nmeth.2611","article-title":"DeNovoGear: de novo indel and point mutation discovery and phasing","volume":"10","author":"Ramu","year":"2013","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2016.06.020_bib19","article-title":"Analysis of protein-coding genetic variation\u00a0in\u00a060,706 humans","author":"Lek","year":"2015","journal-title":"bioRxiv"},{"key":"10.1016\/j.ajhg.2016.06.020_bib20","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1,092 human genomes","volume":"491","author":"Abecasis","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2016.06.020_bib21","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2016.06.020_bib22","doi-asserted-by":"crossref","first-page":"R94","DOI":"10.1186\/gb-2011-12-9-r94","article-title":"Comparison of solution-based exome capture methods for next generation sequencing","volume":"12","author":"Sulonen","year":"2011","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2016.06.020_bib23","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: a matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2016.06.020_bib24","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1038\/ng.3410","article-title":"Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families","volume":"47","author":"Akawi","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.06.020_bib25","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/nature14135","article-title":"Large-scale discovery of novel genetic causes of developmental disorders","volume":"519","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2016.06.020_bib26","first-page":"1093","article-title":"Characterization, crystallization and preliminary X-ray crystallographic analysis of the human Uba5 C-terminus-Ufc1 complex. Acta Crystallograph. Sect. F Struct","volume":"70","author":"Xie","year":"2014","journal-title":"Biol. Cryst. Commun."},{"key":"10.1016\/j.ajhg.2016.06.020_bib27","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/12703","article-title":"Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety","volume":"23","author":"Tronche","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.06.020_bib28","doi-asserted-by":"crossref","first-page":"3458","DOI":"10.1111\/ejn.12711","article-title":"Disruption of actin-binding domain-containing Dystonin protein causes dystonia musculorum in mice","volume":"40","author":"Horie","year":"2014","journal-title":"Eur. J. Neurosci."},{"key":"10.1016\/j.ajhg.2016.06.020_bib29","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1093\/eurpub\/cku174","article-title":"Forty-year trends in cardiovascular risk factors in Finland","volume":"25","author":"Borodulin","year":"2015","journal-title":"Eur. J. Public Health"},{"key":"10.1016\/j.ajhg.2016.06.020_bib30","doi-asserted-by":"crossref","first-page":"e0149039","DOI":"10.1371\/journal.pone.0149039","article-title":"UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia","volume":"11","author":"Duan","year":"2016","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2016.06.020_bib31","doi-asserted-by":"crossref","first-page":"558","DOI":"10.7196\/SAMJnew.7917","article-title":"Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia","volume":"105","author":"Watson","year":"2015","journal-title":"S.\u00a0Afr. Med. J."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716302245?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716302245?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T20:09:04Z","timestamp":1692475744000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929716302245"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":31,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["S0002929716302245"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.020","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2016,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biallelic Variants in UBA5 Link Dysfunctional UFM1\u00a0Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.030","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}