{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T13:29:48Z","timestamp":1777555788856,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T00:00:00Z","timestamp":1668729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005713","name":"Technical University of Munich","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005713","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013295","name":"Helmholtz Zentrum M\u00fcnchen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013295","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005930","name":"ASCRS Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005930","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000646","name":"JSPS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000646","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:p>Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear\u2010pore complex (NPC) gene <jats:italic>NUP62<\/jats:italic>, involved in nucleo\u2010cytoplasmic trafficking. By querying sequencing\u2010datasets of patients with dystonia and\/or Leigh(\u2010like) syndromes, we identified 3 unrelated individuals with biallelic variants in <jats:italic>NUP54<\/jats:italic>. All variants clustered in the C\u2010terminal protein region that interacts with NUP62. Associated phenotypes were similar to those of <jats:italic>NUP62<\/jats:italic>\u2010related disease, including early\u2010onset dystonia with dysphagia, choreoathetosis, and T2\u2010hyperintense lesions in striatum. In silico and protein\u2010biochemical studies gave further evidence for the argument that the variants were pathogenic. We expand the spectrum of NPC component\u2010associated dystonic conditions with localized basal\u2010ganglia abnormalities. ANN NEUROL 2023;93:330\u2013335<\/jats:p>","DOI":"10.1002\/ana.26544","type":"journal-article","created":{"date-parts":[[2022,11,5]],"date-time":"2022-11-05T09:34:10Z","timestamp":1667640850000},"page":"330-335","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Recessive <scp><i>NUP54<\/i><\/scp> Variants Underlie Early\u2010Onset Dystonia with Striatal Lesions"],"prefix":"10.1002","volume":"93","author":[{"given":"Philip","family":"Harrer","sequence":"first","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics, School of Medicine Technical University of Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey","family":"Schalk","sequence":"additional","affiliation":[{"name":"Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace (IGMA), Laboratoires de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux universitaires de Strasbourg  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaru","family":"Shimura","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Center for Medical Genetics, Department of Metabolism Chiba Children's Hospital  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Baer","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, ERN EpiCare H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"Institute for Genetics and Molecular and Cellular Biology (IGBMC)  Illkirch France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nad\u00e8ge","family":"Calmels","sequence":"additional","affiliation":[{"name":"Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace (IGMA), Laboratoires de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux universitaires de Strasbourg  Strasbourg France"},{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U1112 Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace, CRBS  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie Aude","family":"Spitz","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, ERN EpiCare H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Th\u00e9r\u00e8se Abi","family":"Warde","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, ERN EpiCare H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elise","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace (IGMA) H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volker M.Sc","family":"Kittke","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics, School of Medicine Technical University of Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasemin","family":"Dincer","sequence":"additional","affiliation":[{"name":"Lehrstuhl f\u00fcr Sozialp\u00e4diatrie, Department of Pediatrics Technische Universit\u00e4t M\u00fcnchen  Munich Germany"},{"name":"Zentrum f\u00fcr Humangenetik und Laboratoriumsdiagnostik (MVZ)  Martinsried Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4454-8823","authenticated-orcid":false,"given":"Matias","family":"Wagner","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics, School of Medicine Technical University of Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivana","family":"Dzinovic","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics, School of Medicine Technical University of Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riccardo","family":"Berutti","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics, School of Medicine Technical University of Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuharu","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagasaki University Hospital  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiko","family":"Shirakawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagasaki University Hospital  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3241-5502","authenticated-orcid":false,"given":"Yasushi","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine Juntendo University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3923-8636","authenticated-orcid":false,"given":"Kei","family":"Murayama","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Department of Metabolism Chiba Children's Hospital  Chiba Japan"},{"name":"Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine Juntendo University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7447-2252","authenticated-orcid":false,"given":"Konrad","family":"Oexle","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics, School of Medicine Technical University of Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2379-6286","authenticated-orcid":false,"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics, School of Medicine Technical University of Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volker","family":"Mall","sequence":"additional","affiliation":[{"name":"Lehrstuhl f\u00fcr Sozialp\u00e4diatrie, Department of Pediatrics Technische Universit\u00e4t M\u00fcnchen  Munich Germany"},{"name":"kbo\u2010Kinderzentrum M\u00fcnchen  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivo","family":"Mel\u010d\u00e1k","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemical Pharmacology, Department of Pediatrics Emory School of Medicine  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliane","family":"Winkelmann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics, School of Medicine Technical University of Munich  Munich Germany"},{"name":"Lehrstuhl f\u00fcr Neurogenetik Technische Universit\u00e4t M\u00fcnchen  Munich Germany"},{"name":"Munich Cluster for Systems Neurology (SyNergy)  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8112-9153","authenticated-orcid":false,"given":"Michael","family":"Zech","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics, School of Medicine Technical University of Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2928"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.183442"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-014-0296-8"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20902"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(20)30312-4"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-107751"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.09.034"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M115.663500"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aac7420"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aac9176"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.09.012"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pro.3307"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13185"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12915-021-01154-6"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.05.003"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.10.012"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.202010141"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.66321"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.26544","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ana.26544","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.26544","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T04:35:55Z","timestamp":1692333355000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.26544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,18]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1002\/ana.26544"],"URL":"https:\/\/doi.org\/10.1002\/ana.26544","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,18]]},"assertion":[{"value":"2022-08-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}