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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. 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.
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Erogullari A, Hollstein R, Seibler P, Braunholz D, Koschmidder E, Depping R, Eckhold J, Lohnau T, Gillessen-Kaesbach G, Grünewald A, Rakovic A, Lohmann K, Kaiser FJ. Erogullari A, et al. Biochim Biophys Acta. 2014 Nov;1839(11):1196-204. doi: 10.1016/j.bbagrm.2014.07.019. Epub 2014 Aug 1. Biochim Biophys Acta. 2014. PMID: 25088175
RAD21 mutations cause a human cohesinopathy.
Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ. Deardorff MA, et al. Am J Hum Genet. 2012 Jun 8;90(6):1014-27. doi: 10.1016/j.ajhg.2012.04.019. Epub 2012 May 24. Am J Hum Genet. 2012. PMID: 22633399 Free PMC article.
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ. Braunholz D, et al. Eur J Hum Genet. 2012 Mar;20(3):271-6. doi: 10.1038/ejhg.2011.175. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934712 Free PMC article.
"Twitching" and Stiffness in POLG1 Mutation Carriers: Red Flag or Red Herring?
Pauly MG, Tunc S, Bäumer T, Gillessen-Kaesbach G, Münchau A. Pauly MG, et al. Among authors: gillessen kaesbach g. Mov Disord Clin Pract. 2019 Nov 12;7(1):91-93. doi: 10.1002/mdc3.12860. eCollection 2020 Jan. Mov Disord Clin Pract. 2019. PMID: 31970219 Free PMC article. No abstract available.
243 results