{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:27:29Z","timestamp":1791224849103,"version":"4.1.0"},"reference-count":30,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rejuvenation Research"],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:p>\n                    The 43-kD transactive response (TAR)-DNA-binding protein (\n                    <jats:italic toggle=\"yes\">TARDBP)<\/jats:italic>\n                    mutations have been demonstrated to be causative of sporadic and familial forms of amyotrophic lateral sclerosis. More recently, these mutations have been reported in cases of frontotemporal lobar degeneration (FTLD). The aim of this study was to evaluate the role of\n                    <jats:italic toggle=\"yes\">TARDBP<\/jats:italic>\n                    genetic variations in a large sample of consecutive patients with FTLD. A total of 252 FTLD patients were investigated. Each subject had a clinical and neuropsychological evaluation and a brain imaging study. The clinical diagnosis was confirmed by at least 1 year of follow up. The entire\n                    <jats:italic toggle=\"yes\">TARDBP<\/jats:italic>\n                    gene, the intronic flaking regions, and the 5\u2032-untranslated region (5\u2032-UTR) were screened. Six genetic variations were identified in patients with behavioral variant frontotemporal dementia (FTD) and FTD with motor neuron disease phenotypes. Two of these mutations, namely N267S and M359V, lead to amino acid changes within exon 6. We further identified three genetic variations, i.e., Y214Y, IVS-IV\u2009+\u200945C\/T, and 5\u2032-UTR G\/A, that could potentially affect the normal splicing process as predicted by\n                    <jats:italic toggle=\"yes\">in silico<\/jats:italic>\n                    analyses. None of these genetic variations was found in healthy age-matched controls. Moreover, we identified a previously described benign variant, A66A, in 5 patients. Our study has confirmed and extended the list of pathogenetic mutations in the\n                    <jats:italic toggle=\"yes\">TARDBP<\/jats:italic>\n                    gene in both apparently sporadic and familial FTLD patients. This work further supports the need for\n                    <jats:italic toggle=\"yes\">TARDBP<\/jats:italic>\n                    screening in FTLD. Also intronic splicing that affects mutations should be considered as well.\n                  <\/jats:p>","DOI":"10.1089\/rej.2010.1017","type":"journal-article","created":{"date-parts":[[2010,7,20]],"date-time":"2010-07-20T20:59:51Z","timestamp":1279659591000},"page":"509-517","source":"Crossref","is-referenced-by-count":65,"title":["<i>TARDBP<\/i>\n                    Mutations in Frontotemporal Lobar Degeneration: Frequency, Clinical Features, and Disease Course"],"prefix":"10.1177","volume":"13","author":[{"given":"B.","family":"Borroni","sequence":"first","affiliation":[{"name":"University of Brescia","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Archetti","sequence":"additional","affiliation":[{"name":"University of Brescia","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Del Bo","sequence":"additional","affiliation":[{"name":"University of Milan","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Papetti","sequence":"additional","affiliation":[{"name":"University of Brescia","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Buratti","sequence":"additional","affiliation":[{"name":"International Centre for Genetic Engineering and Biotechnology","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Bonvicini","sequence":"additional","affiliation":[{"name":"IRCCS Fatebenefratelli","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Agosti","sequence":"additional","affiliation":[{"name":"University of Brescia","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Cosseddu","sequence":"additional","affiliation":[{"name":"University of Brescia","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Turla","sequence":"additional","affiliation":[{"name":"Valle Camonica Hospital","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Di Lorenzo","sequence":"additional","affiliation":[{"name":"University of Brescia","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Pietro Comi","sequence":"additional","affiliation":[{"name":"University of Milan","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Gennarelli","sequence":"additional","affiliation":[{"name":"University of Brescia","place":["Italy"]},{"name":"IRCCS Fatebenefratelli","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Padovani","sequence":"additional","affiliation":[{"name":"University of Brescia","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2010,10,1]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/31508"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.13.7737"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature05016"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature05017"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1332"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1609"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.6.1546"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.11.1803"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.132"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000193"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1154584"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70071-1"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21612"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21100"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22697"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1134108"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.2741\/2727"},{"key":"e_1_3_3_19_2","first-page":"877","volume-title":"Neurodegenerative diseases","author":"Lang AE","year":"1994","unstructured":"Lang AE, , Riley DE, , Bergeron C. Cortico-basal ganglionic degeneration. Calne D. Neurodegenerative diseases. Philadelphia: WB Saunders, 1994; 877\u2013894."},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20950"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0226-5"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0908767106"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0912417107"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2007.11.002"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2009.02574.x"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21344"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1159\/000241876"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1038\/embor.2009.170"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.07.005"},{"key":"e_1_3_3_30_2","doi-asserted-by":"crossref","unstructured":"Van Deerlin VM Sleiman PM Martinez-Lage M Chen-Plotkin A Wang LS Graff-Radford NR Dickson DW Rademakers R Boeve BF Grossman M Arnold SE Mann DM Pickering-Brown SM Seelaar H Heutink P van Swieten JC Murrell JR Ghetti B Spina S Grafman J Hodges J Spillantini MG Gilman S Lieberman AP Kaye JA Woltjer RL Bigio EH Mesulam M Al-Sarraj S Troakes C Rosenberg RN White CL3rd Ferrer I Llad\u00f3 A Neumann M Kretzschmar HA Hulette CM Welsh-Bohmer KA Miller BL Alzualde A de Munain AL McKee AC Gearing M Levey AI Lah JJ Hardy J Rohrer JD Lashley T Mackenzie IR Feldman HH Hamilton RL Dekosky ST van der Zee J Kumar-Singh S Van Broeckhoven C Mayeux R Vonsattel JP Troncoso JC Kril JJ Kwok JB Halliday GM Bird TD Ince PG Shaw PJ Cairns NJ Morris JC McLean CA Decarli C Ellis WG Freeman SH Frosch MP Growdon JH Perl DP Sano M Bennett DA Schneider JA Beach TG Reiman EM Woodruff BK Cummings J Vinters HV Miller CA Chui HC Alafuzoff I Hartikainen P Seilhean D Galasko D Masliah E Cotman CW Tu\u00f1\u00f3n MT Mart\u00ednez MC Munoz DG Carroll SL Marson D Riederer PF Bogdanovic N Schellenberg GD Hakonarson H Trojanowski JQ Lee VM. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010(in press).","DOI":"10.1038\/ng.536"},{"key":"e_1_3_3_31_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-009-0571-7"}],"container-title":["Rejuvenation Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/rej.2010.1017","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/rej.2010.1017","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/rej.2010.1017","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T01:30:21Z","timestamp":1777685421000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/rej.2010.1017"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10]]},"references-count":30,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["10.1089\/rej.2010.1017"],"URL":"https:\/\/doi.org\/10.1089\/rej.2010.1017","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.12801958.14078058","asserted-by":"object"}]},"ISSN":["1549-1684","1557-8577"],"issn-type":[{"value":"1549-1684","type":"print"},{"value":"1557-8577","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10]]}}}