{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T01:04:32Z","timestamp":1793927072577,"version":"4.8.0"},"reference-count":121,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T00:00:00Z","timestamp":1676937600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004569","name":"Ministerstwo Edukacji i Nauki","doi-asserted-by":"publisher","award":["DI2019 004349"],"award-info":[{"award-number":["DI2019 004349"]}],"id":[{"id":"10.13039\/501100004569","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2021\/41\/B\/NZ3\/03803"],"award-info":[{"award-number":["2021\/41\/B\/NZ3\/03803"]}],"id":[{"id":"10.13039\/501100004281","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":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dentatorubral\u2013pallidoluysian atrophy (DRPLA) is a rare, incurable genetic disease that belongs to the group of polyglutamine (polyQ) diseases. DRPLA is the most common in the Japanese population; however, its global prevalence is also increasing due to better clinical recognition. It is characterized by cerebellar ataxia, myoclonus, epilepsy, dementia, and chorea. DRPLA is caused by dynamic mutation of CAG repeat expansion in <jats:italic>ATN1<\/jats:italic> gene encoding the atrophin\u20101 protein. In the cascade of molecular disturbances, the pathological form of atrophin\u20101 is the initial factor, which has not been precisely characterized so far. Reports indicate that DRPLA is associated with disrupted protein\u2013protein interactions (in which an expanded polyQ tract plays a crucial role), as well as gene expression deregulation. There is a great need to design efficient therapy that would address the underlying neurodegenerative process and thus prevent or alleviate DRPLA symptoms. An in\u2010depth understanding of the normal atrophin\u20101 function and mutant atrophin\u20101 dysfunction is crucial for this purpose. \u00a9 2024 Institute of Bioorganic Chemistry Polish Academy of Sciences. <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p>","DOI":"10.1002\/mds.29355","type":"journal-article","created":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T14:07:17Z","timestamp":1676988437000},"page":"526-536","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Atrophin\u20101 Function and Dysfunction in Dentatorubral\u2013Pallidoluysian Atrophy"],"prefix":"10.1002","volume":"38","author":[{"given":"Bartosz","family":"Nowak","sequence":"first","affiliation":[{"name":"Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Kozlowska","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weronika","family":"Pawlik","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7829-1926","authenticated-orcid":false,"given":"Agnieszka","family":"Fiszer","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,2,21]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.CONB.2021.07.001"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-63233-3.00011-7"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.3727\/096368914X678454"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-008-0028-x"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/302067"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.11.1905"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-10218-6"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.279666"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2009.02757.x"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.1707"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27879"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.137"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2000.0279"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.128074"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.2005.00400.x"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8257(200009)15:5<996::aid-mds1036>3.0.co;2-9"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2021.04.024"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410370220"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(01)00346-0"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30355"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-017-0862-9"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.7916\/D81N9HST"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6493-7"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22642"},{"key":"e_1_2_12_26_1","volume-title":"Dentatorubral Pallidoluysian Atrophy","author":"Rocha Cabrero F","year":"2022"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737175.2018.1503949"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2252"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2010.01120.x"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2010.10.014"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-019-00810-8"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.56.2.277"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.1996.tb00155.x"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1232"},{"key":"e_1_2_12_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-9"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1094-177"},{"key":"e_1_2_12_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab1049"},{"key":"e_1_2_12_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-8-126"},{"key":"e_1_2_12_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23167"},{"key":"e_1_2_12_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/det294"},{"key":"e_1_2_12_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.2.189"},{"key":"e_1_2_12_42_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.663"},{"key":"e_1_2_12_43_1","first-page":"1212","article-title":"Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral\u2010pallidoluysian atrophy: cellular population\u2010dependent dynamics of mitotic instability","volume":"58","author":"Takano H","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_12_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/0169\u2010328X(95)00241\u2010J"},{"key":"e_1_2_12_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-008-8403-9"},{"key":"e_1_2_12_46_1","first-page":"1050","article-title":"Molecular cloning of a full\u2010length cDNA for dentatorubral\u2010pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS","volume":"57","author":"Onodera O","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_12_47_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.46.29238"},{"key":"e_1_2_12_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6815"},{"key":"e_1_2_12_49_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13287-020-01936-9"},{"key":"e_1_2_12_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.03.043"},{"key":"e_1_2_12_51_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.5.1119"},{"key":"e_1_2_12_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00630-4"},{"key":"e_1_2_12_53_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M610274200"},{"key":"e_1_2_12_54_1","doi-asserted-by":"publisher","DOI":"10.1621\/nrs.06009"},{"key":"e_1_2_12_55_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1393506"},{"key":"e_1_2_12_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.01.013"},{"key":"e_1_2_12_57_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14022"},{"key":"e_1_2_12_58_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells11010011"},{"key":"e_1_2_12_59_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-005-0261-9"},{"key":"e_1_2_12_60_1","doi-asserted-by":"publisher","DOI":"10.1006\/mcne.1998.0677"},{"key":"e_1_2_12_61_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M403221200"},{"key":"e_1_2_12_62_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg168"},{"key":"e_1_2_12_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80839-9"},{"key":"e_1_2_12_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00266-3"},{"key":"e_1_2_12_65_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M211224200"},{"key":"e_1_2_12_66_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.biochem.6b00936"},{"key":"e_1_2_12_67_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.13.8730"},{"key":"e_1_2_12_68_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2010.07893.x"},{"key":"e_1_2_12_69_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1066"},{"key":"e_1_2_12_70_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2006.00670.x"},{"key":"e_1_2_12_71_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1413606"},{"key":"e_1_2_12_72_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2013.10.010"},{"key":"e_1_2_12_73_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M809333200"},{"key":"e_1_2_12_74_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.abf5759"},{"key":"e_1_2_12_75_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks011"},{"key":"e_1_2_12_76_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12539-019-00317-y"},{"key":"e_1_2_12_77_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.11.042"},{"key":"e_1_2_12_78_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00908"},{"key":"e_1_2_12_79_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.9.1433"},{"key":"e_1_2_12_80_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M511677200"},{"key":"e_1_2_12_81_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1056784"},{"key":"e_1_2_12_82_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1471-4914(01)02179-7"},{"key":"e_1_2_12_83_1","doi-asserted-by":"publisher","DOI":"10.1038\/79139"},{"key":"e_1_2_12_84_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.150.5.939"},{"key":"e_1_2_12_85_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.6.947"},{"key":"e_1_2_12_86_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-015-9608-1"},{"key":"e_1_2_12_87_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M600113200"},{"key":"e_1_2_12_88_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.642773"},{"key":"e_1_2_12_89_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.22651"},{"key":"e_1_2_12_90_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M808067200"},{"key":"e_1_2_12_91_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1647"},{"key":"e_1_2_12_92_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2012.01.014"},{"key":"e_1_2_12_93_1","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2010.31"},{"key":"e_1_2_12_94_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2017.10.054"},{"key":"e_1_2_12_95_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2013.07.043"},{"key":"e_1_2_12_96_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2011.1"},{"key":"e_1_2_12_97_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.12.012"},{"key":"e_1_2_12_98_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13041-015-0160-8"},{"key":"e_1_2_12_99_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl182"},{"key":"e_1_2_12_100_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn403"},{"key":"e_1_2_12_101_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.1.99"},{"key":"e_1_2_12_102_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-016-2284-0"},{"key":"e_1_2_12_103_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2019.101551"},{"key":"e_1_2_12_104_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2019.101512"},{"key":"e_1_2_12_105_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2019.01.039"},{"key":"e_1_2_12_106_1","doi-asserted-by":"publisher","DOI":"10.1080\/14728222.2020.1827394"},{"key":"e_1_2_12_107_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku385"},{"key":"e_1_2_12_108_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(17)30280-6"},{"key":"e_1_2_12_109_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr333"},{"key":"e_1_2_12_110_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2010.01.008"},{"key":"e_1_2_12_111_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-020-03596-7"},{"key":"e_1_2_12_112_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr156"},{"key":"e_1_2_12_113_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.08.002"},{"key":"e_1_2_12_114_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi500610r"},{"key":"e_1_2_12_115_1","doi-asserted-by":"publisher","DOI":"10.18388\/abp.2016_1336"},{"key":"e_1_2_12_116_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2019.12.012"},{"key":"e_1_2_12_117_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2021.105604"},{"key":"e_1_2_12_118_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebcr.2017.05.004"},{"key":"e_1_2_12_119_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2020.10.033"},{"key":"e_1_2_12_120_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2015.10.038"},{"key":"e_1_2_12_121_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-71779-1_4"},{"key":"e_1_2_12_122_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells11040677"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.29355","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.29355","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.29355","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:40:04Z","timestamp":1760971204000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.29355"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,21]]},"references-count":121,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1002\/mds.29355"],"URL":"https:\/\/doi.org\/10.1002\/mds.29355","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,21]]},"assertion":[{"value":"2022-09-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}