{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:55:52Z","timestamp":1787774152635,"version":"build-2784847793"},"reference-count":52,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T00:00:00Z","timestamp":1736380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006312","name":"BrightFocus Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006312","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013013","name":"Target ALS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013013","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AG037491"],"award-info":[{"award-number":["R01AG037491"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R35NS097273"],"award-info":[{"award-number":["R35NS097273"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RF1NS120992"],"award-info":[{"award-number":["RF1NS120992"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U19AG063911"],"award-info":[{"award-number":["U19AG063911"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54NS123743"],"award-info":[{"award-number":["U54NS123743"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012312","name":"Robert Packard Center for ALS Research, Johns Hopkins University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012312","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":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Perry syndrome (PS) is a rare and fatal hereditary autosomal dominant neurodegenerative disorder caused by mutations in dynactin (\n                      <jats:italic>DCTN1<\/jats:italic>\n                      ). PS brains accumulate inclusions positive for ubiquitin, transactive\u2010response DNA\u2010binding protein of 43\u2009kDa (TDP\u201043), and to a lesser extent dynactin.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Little is known regarding the contributions of TDP\u201043, an RNA binding protein that represses cryptic exon inclusion, in PS. Therefore, we sought to identify the degree of TDP\u201043 dysfunction in two regions of PS brains.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We evaluated the levels of insoluble pTDP\u201043 and TDP\u201043\u2010regulated cryptic RNAs and protein in the caudate nucleus and substantia nigra of 7 PS cases, 12 cases of frontotemporal lobar degeneration (FTLD) with TDP\u201043 pathology, and 11 cognitively healthy controls without TDP\u201043 pathology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Insoluble pTDP\u201043 protein levels were detected in PS brains to a similar extent in the caudate nucleus and substantia nigra but lower than those in FTLD brains. The caudate nucleus of PS showed accumulation of eight TDP\u201043\u2010regulated cryptic RNAs (\n                      <jats:italic>ACTL6B<\/jats:italic>\n                      ,\n                      <jats:italic>CAMK2B<\/jats:italic>\n                      ,\n                      <jats:italic>STMN2<\/jats:italic>\n                      ,\n                      <jats:italic>UNC13A<\/jats:italic>\n                      ,\n                      <jats:italic>KCNQ2<\/jats:italic>\n                      ,\n                      <jats:italic>ATG4B<\/jats:italic>\n                      ,\n                      <jats:italic>GPSM2<\/jats:italic>\n                      , and\n                      <jats:italic>HDGFL2<\/jats:italic>\n                      ) and cryptic protein (HDGFL2) characteristic of FTLD. Conversely, only one cryptic target,\n                      <jats:italic>UNC13A<\/jats:italic>\n                      , reached significance in the substantia nigra despite similar pTDP\u201043 levels.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We detected TDP\u201043 cryptic RNAs and protein in PS caudate nucleus. Given the importance of cryptic exon biology in the development of biomarkers, and the identification of novel targets for therapeutic intervention, it is imperative we understand the consequences of TDP\u201043 dysfunction across different brain regions and determine the targets that are specific and common to TDP\u201043 proteinopathies. \u00a9 2025 The Author(s).\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.30104","type":"journal-article","created":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T22:19:52Z","timestamp":1736461192000},"page":"662-671","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["<scp>TDP\u201043<\/scp>\n                    Cryptic\n                    <scp>RNAs<\/scp>\n                    in Perry Syndrome: Differences across Brain Regions and\n                    <scp>TDP\u201043<\/scp>\n                    Proteinopathies"],"prefix":"10.1002","volume":"40","author":[{"given":"Sarah R.","family":"Pickles","sequence":"first","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"},{"name":"Neurobiology of Disease Graduate Program, Mayo Graduate School Mayo Clinic College of Medicine  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1677-2760","authenticated-orcid":false,"given":"Jesus","family":"Gonzalez Bejarano","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand","family":"Narayan","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lillian","family":"Daughrity","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candela","family":"Maroto Cidfuentes","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madison M.","family":"Reeves","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Castellanos Otero","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Estades Ayuso","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"},{"name":"Neurobiology of Disease Graduate Program, Mayo Graduate School Mayo Clinic College of Medicine  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy","family":"Dunmore","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuping","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jimei","family":"Tong","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"DeTure","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bailey","family":"Rawlinson","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Castanedes\u2010Casey","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaroslaw","family":"Dulski","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic  Jacksonville Florida USA"},{"name":"Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences Medical University of Gdansk  Gdansk Poland"},{"name":"Neurology Department St Adalbert Hospital, Copernicus PL Ltd.  Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalina","family":"Cerquera\u2010Cleves","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Neurology Unit Hospital Universitario San Ignacio  Bogota Colombia"},{"name":"CHU de Qu\u00e9bec Research Center, Axe Neurosciences Universit\u00e9 Laval  Quebec City Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongjie","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"},{"name":"Neurobiology of Disease Graduate Program, Mayo Graduate School Mayo Clinic College of Medicine  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2930-8634","authenticated-orcid":false,"given":"Keith A.","family":"Josephs","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis W.","family":"Dickson","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"},{"name":"Neurobiology of Disease Graduate Program, Mayo Graduate School Mayo Clinic College of Medicine  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard","family":"Petrucelli","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"},{"name":"Neurobiology of Disease Graduate Program, Mayo Graduate School Mayo Clinic College of Medicine  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5487-1053","authenticated-orcid":false,"given":"Zbigniew K.","family":"Wszolek","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4894-4858","authenticated-orcid":false,"given":"Mercedes","family":"Prudencio","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Mayo Clinic  Jacksonville Florida USA"},{"name":"Neurobiology of Disease Graduate Program, Mayo Graduate School Mayo Clinic College of Medicine  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2008.07.005"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2007.07.014"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-316864"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2009.08.044"},{"key":"e_1_2_9_6_1","volume-title":"GeneReviews((R))","author":"Dulski J","year":"1993"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.5603\/pjnns.97806"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15048"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1975.00490440058009"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.293"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2016.04.025"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25893"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlx049"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3181baacec"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-023-01560-7"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-009-0547-7"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-019-02070-4"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq137"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aab0983"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-023-00608-5"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-017-1701-2"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-016-0144-x"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI139741"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-018-0293-z"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-018-0300-4"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-04436-3"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-04424-7"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1080\/15548627.2018.1474311"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.adg7162"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-024-00718-8"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-023-00646-z"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0298080"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.abh2169"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-023-01496-0"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2022.111001"},{"issue":"1671","key":"e_1_2_9_36_1","article-title":"Loss of mouse Stmn2 function causes motor neuropathy","volume":"110","author":"Guerra San Juan I","year":"2022","journal-title":"Neuron"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1101\/2024.06.20.599684"},{"issue":"630","key":"e_1_2_9_38_1","first-page":"e633","article-title":"UNC13A is a modifier of survival in amyotrophic lateral sclerosis","volume":"33","author":"Diekstra FP","year":"2012","journal-title":"Neurobiol Aging"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.adk2539"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-023-02788-5"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.116.1.201"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.052969"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1525528113"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2015.04.003"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/glia.20273"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.32607\/20758251-2015-7-2-42-47"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-021-02399-9"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.75230"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.64456"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.3002028"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/s42003-022-03253-8"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-022-01408-6"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.abq5622"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.30104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:32:43Z","timestamp":1760952763000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.30104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,9]]},"references-count":52,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1002\/mds.30104"],"URL":"https:\/\/doi.org\/10.1002\/mds.30104","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,9]]},"assertion":[{"value":"2024-10-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}