194 related articles for article (PubMed ID: 28486698)
1. Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.
Hollstein R; Reiz B; Kötter L; Richter A; Schaake S; Lohmann K; Kaiser FJ
Hum Mol Genet; 2017 Aug; 26(15):2975-2983. PubMed ID: 28486698
[TBL] [Abstract][Full Text] [Related]
2. The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias.
Mazars R; Gonzalez-de-Peredo A; Cayrol C; Lavigne AC; Vogel JL; Ortega N; Lacroix C; Gautier V; Huet G; Ray A; Monsarrat B; Kristie TM; Girard JP
J Biol Chem; 2010 Apr; 285(18):13364-71. PubMed ID: 20200153
[TBL] [Abstract][Full Text] [Related]
3. In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
Richter A; Hollstein R; Hebert E; Vulinovic F; Eckhold J; Osmanovic A; Depping R; Kaiser FJ; Lohmann K
J Mol Neurosci; 2017 May; 62(1):11-16. PubMed ID: 28299530
[TBL] [Abstract][Full Text] [Related]
4. 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
Ann Neurol; 2010 Oct; 68(4):554-9. PubMed ID: 20976771
[TBL] [Abstract][Full Text] [Related]
5. 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
Biochim Biophys Acta; 2014 Nov; 1839(11):1196-204. PubMed ID: 25088175
[TBL] [Abstract][Full Text] [Related]
6. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Djarmati A; Schneider SA; Lohmann K; Winkler S; Pawlack H; Hagenah J; Brüggemann N; Zittel S; Fuchs T; Raković A; Schmidt A; Jabusch HC; Wilcox R; Kostić VS; Siebner H; Altenmüller E; Münchau A; Ozelius LJ; Klein C
Lancet Neurol; 2009 May; 8(5):447-52. PubMed ID: 19345148
[TBL] [Abstract][Full Text] [Related]
7. Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.
Cheng F; Walter M; Wassouf Z; Hentrich T; Casadei N; Schulze-Hentrich J; Barbuti P; Krueger R; Riess O; Grundmann-Hauser K; Ott T
J Mol Neurosci; 2020 Jul; 70(7):999-1008. PubMed ID: 32112337
[TBL] [Abstract][Full Text] [Related]
8. Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.
Jurek M; Hoffman-Zacharska D; Koziorowski D; Mądry J; Friedman A; Bal J
Neurol Neurochir Pol; 2014; 48(4):254-7. PubMed ID: 25168324
[TBL] [Abstract][Full Text] [Related]
9. Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
Zakirova Z; Fanutza T; Bonet J; Readhead B; Zhang W; Yi Z; Beauvais G; Zwaka TP; Ozelius LJ; Blitzer RD; Gonzalez-Alegre P; Ehrlich ME
PLoS Genet; 2018 Jan; 14(1):e1007169. PubMed ID: 29364887
[TBL] [Abstract][Full Text] [Related]
10. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
Blanchard A; Ea V; Roubertie A; Martin M; Coquart C; Claustres M; Béroud C; Collod-Béroud G
Hum Mutat; 2011 Nov; 32(11):1213-24. PubMed ID: 21793105
[TBL] [Abstract][Full Text] [Related]
11. Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
Saunders-Pullman R; Fuchs T; San Luciano M; Raymond D; Brashear A; Ortega R; Deik A; Ozelius LJ; Bressman SB
Mov Disord; 2014 May; 29(6):812-8. PubMed ID: 24500857
[TBL] [Abstract][Full Text] [Related]
12. Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.
Sengel C; Gavarini S; Sharma N; Ozelius LJ; Bragg DC
J Neurochem; 2011 Sep; 118(6):1087-100. PubMed ID: 21752024
[TBL] [Abstract][Full Text] [Related]
13. Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes.
Frederick NM; Shah PV; Didonna A; Langley MR; Kanthasamy AG; Opal P
Hum Mol Genet; 2019 Apr; 28(8):1343-1356. PubMed ID: 30590536
[TBL] [Abstract][Full Text] [Related]
14. Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1.
Campagne S; Muller I; Milon A; Gervais V
Nucleic Acids Res; 2012 Oct; 40(19):9927-40. PubMed ID: 22844099
[TBL] [Abstract][Full Text] [Related]
15. DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
Cheng F; Zheng W; Barbuti PA; Bonsi P; Liu C; Casadei N; Ponterio G; Meringolo M; Admard J; Dording CM; Yu-Taeger L; Nguyen HP; Grundmann-Hauser K; Ott T; Houlden H; Pisani A; Krüger R; Riess O
Brain; 2022 Nov; 145(11):3968-3984. PubMed ID: 35015830
[TBL] [Abstract][Full Text] [Related]
16. 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
Eur J Hum Genet; 2012 Feb; 20(2):171-5. PubMed ID: 21847143
[TBL] [Abstract][Full Text] [Related]
17. Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.
Cheng FB; Feng JC; Ma LY; Miao J; Ott T; Wan XH; Grundmann K
Mov Disord; 2014 Jul; 29(8):1079-83. PubMed ID: 24862462
[TBL] [Abstract][Full Text] [Related]
18. Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.
Zittel S; Moll CK; Brüggemann N; Tadic V; Hamel W; Kasten M; Lohmann K; Lohnau T; Winkler S; Gerloff C; Schönweiler R; Hagenah J; Klein C; Münchau A; Schneider SA
Mov Disord; 2010 Oct; 25(14):2405-12. PubMed ID: 20687193
[TBL] [Abstract][Full Text] [Related]
19. Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Domingo A; Yadav R; Shah S; Hendriks WT; Erdin S; Gao D; O'Keefe K; Currall B; Gusella JF; Sharma N; Ozelius LJ; Ehrlich ME; Talkowski ME; Bragg DC
Am J Hum Genet; 2021 Nov; 108(11):2145-2158. PubMed ID: 34672987
[TBL] [Abstract][Full Text] [Related]
20. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.
Gavarini S; Cayrol C; Fuchs T; Lyons N; Ehrlich ME; Girard JP; Ozelius LJ
Ann Neurol; 2010 Oct; 68(4):549-53. PubMed ID: 20865765
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
