{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:19:58Z","timestamp":1790889598282,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,5,6]],"date-time":"2023-05-06T00:00:00Z","timestamp":1683331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFA0805200"],"award-info":[{"award-number":["2021YFA0805200"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2016YFC0901505"],"award-info":[{"award-number":["2016YFC0901505"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171393"],"award-info":[{"award-number":["82171393"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7212116"],"award-info":[{"award-number":["7212116"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2022JJ20094"],"award-info":[{"award-number":["2022JJ20094"]}],"id":[{"id":"10.13039\/501100004735","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":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>More than 50 loci are associated with spinocerebellar ataxia (SCA), and the most frequent subtypes share nucleotide repeats expansion, especially CAG expansion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The objective of this study was to confirm a novel SCA subtype caused by CAG expansion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We performed long\u2010read whole\u2010genome sequencing combined with linkage analysis in a five\u2010generation Chinese family, and the finding was validated in another pedigree. The three\u2010dimensional structure and function of\n                      <jats:italic>THAP11<\/jats:italic>\n                      mutant protein were predicted. Polyglutamine (polyQ) toxicity of\n                      <jats:italic>THAP11<\/jats:italic>\n                      gene with CAG expansion was assessed in skin fibroblasts of patients, human embryonic kidney 293 and Neuro\u20102a cells.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified\n                      <jats:italic>THAP11<\/jats:italic>\n                      as the novel causative SCA gene with CAG repeats ranging from 45 to 100 in patients with ataxia and from 20 to 38 in healthy control subjects. Among the patients, the number of CAA interruptions within CAG repeats was decreased to 3 (up to 5\u20136 in controls), whereas the number of 3\u2032 pure CAG repeats was up to 32 to 87 (4\u201316 in controls), suggesting that the toxicity of polyQ protein was length dependent on the pure CAG repeats. Intracellular aggregates were observed in cultured skin fibroblasts from patients.\n                      <jats:italic>THAP11<\/jats:italic>\n                      polyQ protein was more intensely distributed in the cytoplasm of cultured skin fibroblasts from patients, which was replicated with in vitro cultured neuro\u20102a transfected with 54 or 100 CAG repeats.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This study identified a novel SCA subtype caused by intragenic CAG repeat expansion in\n                      <jats:italic>THAP11<\/jats:italic>\n                      with intracellular aggregation of\n                      <jats:italic>THAP11<\/jats:italic>\n                      polyQ protein. Our findings extended the spectrum of polyQ diseases and offered a new perspective in understanding polyQ\u2010mediated toxic aggregation. \u00a9 2023 The Authors.\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.29412","type":"journal-article","created":{"date-parts":[[2023,5,6]],"date-time":"2023-05-06T14:59:52Z","timestamp":1683385192000},"page":"1282-1293","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":55,"title":["<scp>CAG<\/scp>\n                    Repeat Expansion in\n                    <scp>\n                      <i>THAP11<\/i>\n                    <\/scp>\n                    Is Associated with a Novel Spinocerebellar Ataxia"],"prefix":"10.1002","volume":"38","author":[{"given":"Dandan","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cuijie","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences Peking University  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianwen","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingjing","family":"Li","sequence":"additional","affiliation":[{"name":"GrandOmics Biosciences  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yidan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinhua","family":"Bao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Xu","sequence":"additional","affiliation":[{"name":"Center of Ultrastructural Pathology, Lab of Electron Microscopy Peking University First Hospital  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengmao","family":"Hu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South University  Changsha P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suxia","family":"Wang","sequence":"additional","affiliation":[{"name":"Center of Ultrastructural Pathology, Lab of Electron Microscopy Peking University First Hospital  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanbin","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yizheng","family":"Jiang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South University  Changsha P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panyan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuehua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhixian","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwu","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Sciences and Key Laboratory of Molecular Cardiovascular Sciences Peking University Health Science Center  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1380-3534","authenticated-orcid":false,"given":"Daojun","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University  Nanchang P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanbert","family":"Zhong","sequence":"additional","affiliation":[{"name":"New York State Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2812-4120","authenticated-orcid":false,"given":"Hong","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha P.R. China"},{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South University  Changsha P.R. China"},{"name":"National Clinical Research Center for Geriatric Diseases Central South University  Changsha P.R. China"},{"name":"National International Collaborative Research Center for Medical Metabolomics Central South University  Changsha P.R. China"},{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4138-2992","authenticated-orcid":false,"given":"Hui","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing P.R. China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-018-9076-4"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0051-6"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000358801"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/64.3.171"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-021-10467-z"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.4103\/aian.AIAN_266_17"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-020-04408-3"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcac030"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-018-00696-y"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2018.10.004"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy016"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0194-8"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/cbin.10255"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)92879-9"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001711"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab077"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.04.011"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(02)00013-0"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-1052-x"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0154-1"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28982"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.04.015"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10467"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14405"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.439"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1590\/1678-4685-gmb-2019-0325"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31822e5627"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20466"},{"key":"e_1_2_9_30_1","first-page":"351","article-title":"Fragile X gene instability: anchoring AGGs and linked microsatellites","volume":"57","author":"Zhong N","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1193-254"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/gbe\/evab246"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab148"},{"key":"e_1_2_9_34_1","first-page":"730","article-title":"Non\u2010Mendelian transmission in dentatorubral\u2010pallidoluysian atrophy and Machado\u2010Joseph disease: the mutant allele is preferentially transmitted in male meiosis","volume":"58","author":"Ikeuchi T","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12523"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn.2017.92"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.10.1510"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-018-0547-8"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/gbe\/evy046"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-71779-1_14"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsb.2017.09.006"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.044834"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.09.051"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.vh.2022.01.010"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx157"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-27759-7"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.29412","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:00:56Z","timestamp":1760950856000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.29412"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,6]]},"references-count":45,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/mds.29412"],"URL":"https:\/\/doi.org\/10.1002\/mds.29412","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,6]]},"assertion":[{"value":"2023-02-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}