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The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K. Kaiser FJ, et al. Among authors: uflacker n. Ann Neurol. 2010 Oct;68(4):554-9. doi: 10.1002/ana.22157. Ann Neurol. 2010. PMID: 20976771
Identification and functional analysis of novel THAP1 mutations.
Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn AA, Schmidt A, Altenmüller E, Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Brüggemann N. Lohmann K, et al. Among authors: uflacker n. Eur J Hum Genet. 2012 Feb;20(2):171-5. doi: 10.1038/ejhg.2011.159. Epub 2011 Aug 17. Eur J Hum Genet. 2012. PMID: 21847143 Free PMC article.
Truncating mutations in THAP1 define the nuclear localization signal.
Osmanovic A, Dendorfer A, Erogullari A, Uflacker N, Braunholz D, Rakovic A, Vierke G, Gil-Rodríguez C, Münchau A, Albrecht M, Brüggemann N, Gillessen-Kaesbach G, Klein C, Lohmann K, Kaiser FJ. Osmanovic A, et al. Among authors: uflacker n. Mov Disord. 2011 Jul;26(8):1565-7. doi: 10.1002/mds.23611. Epub 2011 Apr 14. Mov Disord. 2011. PMID: 21495072 No abstract available.
No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia.
Kamm C, Uflacker N, Asmus F, Schrader C, Wolters A, Wittstock M, Pahnke J, Gasser T, Volkmann J, Münchau A, Hagenah J, Benecke R, Klein C, Lohmann K. Kamm C, et al. Among authors: uflacker n. Mov Disord. 2011 Sep;26(11):2136-7. doi: 10.1002/mds.23777. Epub 2011 Jun 2. Mov Disord. 2011. PMID: 21638323 No abstract available.