{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T23:42:09Z","timestamp":1778802129488,"version":"3.51.4"},"reference-count":55,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2022,1,7]],"date-time":"2022-01-07T00:00:00Z","timestamp":1641513600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"University of Tuebingen","award":["FC: 2407-0-0"],"award-info":[{"award-number":["FC: 2407-0-0"]}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"crossref","award":["OR: RI 682\/19-1"],"award-info":[{"award-number":["OR: RI 682\/19-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"crossref","award":["AOBJ663994"],"award-info":[{"award-number":["AOBJ663994"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NGS Competence Center T\u00fcbingen","award":["INST 37\/1049-1"],"award-info":[{"award-number":["INST 37\/1049-1"]}]},{"DOI":"10.13039\/501100001866","name":"Fonds National de Recherche Luxembourg","doi-asserted-by":"crossref","award":["FNR\/P13\/6682797"],"award-info":[{"award-number":["FNR\/P13\/6682797"]}],"id":[{"id":"10.13039\/501100001866","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>DYT6 dystonia is caused by mutations in the transcription factor THAP1. THAP1 knock-out or knock-in mouse models revealed complex gene expression changes, which are potentially responsible for the pathogenesis of DYT6 dystonia. However, how THAP1 mutations lead to these gene expression alterations and whether the gene expression changes are also reflected in the brain of THAP1 patients are still unclear. In this study we used epigenetic and transcriptomic approaches combined with multiple model systems [THAP1 patients\u2019 frontal cortex, THAP1 patients\u2019 induced pluripotent stem cell (iPSC)-derived midbrain dopaminergic neurons, THAP1 heterozygous knock-out rat model, and THAP1 heterozygous knock-out SH-SY5Y cell lines] to uncover a novel function of THAP1 and the potential pathogenesis of DYT6 dystonia.<\/jats:p>\n               <jats:p>We observed that THAP1 targeted only a minority of differentially expressed genes caused by its mutation. THAP1 mutations lead to dysregulation of genes mainly through regulation of SP1 family members, SP1 and SP4, in a cell type dependent manner. Comparing global differentially expressed genes detected in THAP1 patients\u2019 iPSC-derived midbrain dopaminergic neurons and THAP1 heterozygous knock-out rat striatum, we observed many common dysregulated genes and 61 of them were involved in dystonic syndrome-related pathways, like synaptic transmission, nervous system development, and locomotor behaviour. Further behavioural and electrophysiological studies confirmed the involvement of these pathways in THAP1 knock-out rats.<\/jats:p>\n               <jats:p>Taken together, our study characterized the function of THAP1 and contributes to the understanding of the pathogenesis of primary dystonia in humans and rats. As SP1 family members were dysregulated in some neurodegenerative diseases, our data may link THAP1 dystonia to multiple neurological diseases and may thus provide common treatment targets.<\/jats:p>","DOI":"10.1093\/brain\/awac001","type":"journal-article","created":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T12:22:41Z","timestamp":1641385361000},"page":"3968-3984","source":"Crossref","is-referenced-by-count":13,"title":["DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family"],"prefix":"10.1093","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7215-8593","authenticated-orcid":false,"given":"Fubo","family":"Cheng","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of Tuebingen , Tuebingen , Germany"},{"name":"Department of Neurology, The First Hospital of Jilin University , Changchun , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenxu","family":"Zheng","sequence":"additional","affiliation":[{"name":"Institute for Ophthalmic Research Centre for Ophthalmology, University of Tuebingen , Tuebingen , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter Antony","family":"Barbuti","sequence":"additional","affiliation":[{"name":"Transversal Translational Medicine, Luxembourg Institute of Health (LIH) , Strassen , Luxembourg"},{"name":"Department of Neurology, Columbia University Irving Medical Center , New York, NY , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Bonsi","sequence":"additional","affiliation":[{"name":"Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia , Rome , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2859-4288","authenticated-orcid":false,"given":"Chang","family":"Liu","sequence":"additional","affiliation":[{"name":"Institute of Biology, University of Hohenheim , Garbenstrasse 30, 70599 Stuttgart , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Casadei","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of Tuebingen , Tuebingen , Germany"},{"name":"NGS Competence Center Tuebingen, Institute of Medical Genetics and Applied Genomics, University of Tuebingen , Tuebingen , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Ponterio","sequence":"additional","affiliation":[{"name":"Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia , Rome , 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Luxembourg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Libo","family":"Yu-Taeger","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of Tuebingen , Tuebingen , Germany"},{"name":"Department of Human Genetics, Faculty of Medicine, Ruhr University Bochum , Bochum , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huu Phuc","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Faculty of Medicine, Ruhr University Bochum , Bochum , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathrin","family":"Grundmann-Hauser","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of Tuebingen , Tuebingen , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Ott","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of Tuebingen , Tuebingen , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Pisani","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences, University of Pavia , Pavia , Italy"},{"name":"IRCCS C. 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