Literature DB >> 21495072

Truncating mutations in THAP1 define the nuclear localization signal.

Alma Osmanovic, Andreas Dendorfer, Alev Erogullari, Nils Uflacker, Diana Braunholz, Aleksandar Rakovic, Gudrun Vierke, Conchi Gil-Rodríguez, Alexander Münchau, Melanie Albrecht, Norbert Brüggemann, Gabriele Gillessen-Kaesbach, Christine Klein, Katja Lohmann, Frank J Kaiser.   

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Year:  2011        PMID： 21495072     DOI： 10.1002/mds.23611

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  8 in total

1.  Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.

Authors:  Cem Sengel; Sophie Gavarini; Nutan Sharma; Laurie J Ozelius; D Cristopher Bragg
Journal:  J Neurochem       Date:  2011-08-08       Impact factor: 5.372

2.  Identification and functional analysis of novel THAP1 mutations.

Authors:  Katja Lohmann; Nils Uflacker; Alev Erogullari; Thora Lohnau; Susen Winkler; Andreas Dendorfer; Susanne A Schneider; Alma Osmanovic; Marina Svetel; Andreas Ferbert; Simone Zittel; Andrea A Kühn; Alexander Schmidt; Eckart Altenmüller; Alexander Münchau; Christoph Kamm; Matthias Wittstock; Andreas Kupsch; Elena Moro; Jens Volkmann; Vladimir Kostic; Frank J Kaiser; Christine Klein; Norbert Brüggemann
Journal:  Eur J Hum Genet       Date:  2011-08-17       Impact factor: 4.246

3.  In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

Authors:  Alev Richter; Ronja Hollstein; Eva Hebert; Franca Vulinovic; Juliane Eckhold; Alma Osmanovic; Reinhard Depping; Frank J Kaiser; Katja Lohmann
Journal:  J Mol Neurosci       Date:  2017-03-15       Impact factor: 3.444

Review 4.  Isolated dystonia: clinical and genetic updates.

Authors:  Aloysius Domingo; Rachita Yadav; Laurie J Ozelius
Journal:  J Neural Transm (Vienna)       Date:  2020-11-27       Impact factor: 3.575

5.  Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions.

Authors:  Maitane Ortiz-Virumbrales; Marta Ruiz; Eugene Hone; Georgia Dolios; Rong Wang; Andrika Morant; Jessica Kottwitz; Laurie J Ozelius; Sam Gandy; Michelle E Ehrlich
Journal:  Acta Neuropathol Commun       Date:  2014-09-18       Impact factor: 7.801

6.  Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.

Authors:  Aloysius Domingo; Rachita Yadav; Shivangi Shah; William T Hendriks; Serkan Erdin; Dadi Gao; Kathryn O'Keefe; Benjamin Currall; James F Gusella; Nutan Sharma; Laurie J Ozelius; Michelle E Ehrlich; Michael E Talkowski; D Cristopher Bragg
Journal:  Am J Hum Genet       Date:  2021-10-20       Impact factor: 11.025

Review 7.  THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.

Authors:  Georgia Xiromerisiou; Henry Houlden; Nikolaos Scarmeas; Maria Stamelou; Eleanna Kara; John Hardy; Andrew J Lees; Prasad Korlipara; Patricia Limousin; Reema Paudel; Georgios M Hadjigeorgiou; Kailash P Bhatia
Journal:  Mov Disord       Date:  2012-08-17       Impact factor: 10.338

8.  Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.

Authors:  Fubo Cheng; Michael Walter; Zinah Wassouf; Thomas Hentrich; Nicolas Casadei; Julia Schulze-Hentrich; Peter Barbuti; Rejko Krueger; Olaf Riess; Kathrin Grundmann-Hauser; Thomas Ott
Journal:  J Mol Neurosci       Date:  2020-02-28       Impact factor: 3.444
  8 in total

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