{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T17:36:04Z","timestamp":1790444164732,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FOR2488"],"award-info":[{"award-number":["FOR2488"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008440","name":"International Parkinson and Movement Disorder Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>X\u2010linked dystonia\u2010parkinsonism (XDP) is a neurodegenerative disorder caused by the intronic insertion of a SINE\u2010VNTR\u2010<jats:italic>Alu<\/jats:italic> (SVA) retrotransposon carrying an (AGAGGG)<jats:sub><jats:italic>n<\/jats:italic><\/jats:sub> repeat expansion in the <jats:italic>TAF1<\/jats:italic> gene. The molecular mechanisms by which this mutation causes neurodegeneration remain elusive.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>We investigated whether (AGAGGG)<jats:italic><jats:sub>n<\/jats:sub><\/jats:italic> repeats undergo repeat\u2010associated non\u2010AUG (RAN) translation, a pathogenic mechanism common among repeat expansion diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>XDP\u2010specific RAN translation reporter plasmids were generated, transfected in HEK293 cells, and putative dipeptide repeat proteins (DPRs) were detected by Western blotting. Immunocytochemistry was performed in COS\u20107 cells to determine the subcellular localization of one DPR.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We detected putative DPRs from two reading frames, supporting the translation of poly\u2010(Glu\u2010Gly) and poly\u2010(Arg\u2010Glu) species. XDP RAN translation initiates within the (AGAGGG)<jats:sub><jats:italic>n<\/jats:italic><\/jats:sub> sequence and poly\u2010(Glu\u2010Gly) DPRs formed nuclear inclusions in transfected cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In summary, our work provides the first <jats:italic>in\u2010vitro<\/jats:italic> proof of principle that the XDP\u2010linked (AGAGGG)<jats:sub><jats:italic>n<\/jats:italic><\/jats:sub> repeat expansions can undergo RAN translation. \u00a9 2022 The Authors. <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.29183","type":"journal-article","created":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T06:57:08Z","timestamp":1660633028000},"page":"2284-2289","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Repeat\u2010Associated Non\u2010<scp>AUG<\/scp> Translation of <scp>AGAGGG<\/scp> Repeats that Cause <scp>X<\/scp>\u2010Linked Dystonia\u2010Parkinsonism"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5110-7121","authenticated-orcid":false,"given":"Charles Jourdan","family":"Reyes","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8636-0263","authenticated-orcid":false,"given":"Katsura","family":"Asano","sequence":"additional","affiliation":[{"name":"Molecular Cellular and Developmental Biology Program, Division of Biology Kansas State University  Manhattan Kansas USA"},{"name":"Laboratory of Translational Control Study, Graduate School of Integrated Sciences for Life Hiroshima University  Hiroshima Japan"},{"name":"Hiroshima Research Center for Healthy Aging Hiroshima University  Hiroshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4781-6376","authenticated-orcid":false,"given":"Peter K.","family":"Todd","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Michigan Medical School  Ann Arbor Michigan USA"},{"name":"Veterans Affairs Medical Center  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2102-3431","authenticated-orcid":false,"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  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