177 related articles for article (PubMed ID: 34095114)
1. Reduced Expression of GABA
Staege S; Kutschenko A; Baumann H; Glaß H; Henkel L; Gschwendtberger T; Kalmbach N; Klietz M; Hermann A; Lohmann K; Seibler P; Wegner F
Front Cell Dev Biol; 2021; 9():650586. PubMed ID: 34095114
[TBL] [Abstract][Full Text] [Related]
2. Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons.
Kutschenko A; Staege S; Grütz K; Glaß H; Kalmbach N; Gschwendtberger T; Henkel LM; Heine J; Grünewald A; Hermann A; Seibler P; Wegner F
Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33808167
[TBL] [Abstract][Full Text] [Related]
3. Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.
Baumann H; Ott F; Weber J; Trilck-Winkler M; Münchau A; Zittel S; Kostić VS; Kaiser FJ; Klein C; Busch H; Seibler P; Lohmann K
Mov Disord; 2021 Jun; 36(6):1381-1391. PubMed ID: 33547842
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Neuronal Dysfunction in iPSC-Derived Medium Spiny Neurons from Chorea-Acanthocytosis Patients Is Reversed by Src Kinase Inhibition and F-Actin Stabilization.
Stanslowsky N; Reinhardt P; Glass H; Kalmbach N; Naujock M; Hensel N; Lübben V; Pal A; Venneri A; Lupo F; De Franceschi L; Claus P; Sterneckert J; Storch A; Hermann A; Wegner F
J Neurosci; 2016 Nov; 36(47):12027-12043. PubMed ID: 27881786
[TBL] [Abstract][Full Text] [Related]
8. Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.
Ruiz M; Perez-Garcia G; Ortiz-Virumbrales M; Méneret A; Morant A; Kottwitz J; Fuchs T; Bonet J; Gonzalez-Alegre P; Hof PR; Ozelius LJ; Ehrlich ME
Hum Mol Genet; 2015 Dec; 24(25):7159-70. PubMed ID: 26376866
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.
van der Heijden ME; Kizek DJ; Perez R; Ruff EK; Ehrlich ME; Sillitoe RV
J Physiol; 2021 Apr; 599(7):2037-2054. PubMed ID: 33369735
[TBL] [Abstract][Full Text] [Related]
11. Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.
Baumann H; Jahn M; Muenchau A; Trilck-Winkler M; Lohmann K; Seibler P
Stem Cell Res; 2018 Dec; 33():60-64. PubMed ID: 30316041
[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. 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]
14. 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]
15. 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]
16. DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.
Diaw SH; Delcambre S; Much C; Ott F; Kostic VS; Gajos A; Münchau A; Zittel S; Busch H; Grünewald A; Klein C; Lohmann K
Neurogenetics; 2024 Apr; 25(2):141-147. PubMed ID: 38498291
[TBL] [Abstract][Full Text] [Related]
17. Cerebellar Involvement in DYT-THAP1 Dystonia.
Nikolov P; Hassan SS; Aytulun A; Hartmann CJ; Kohlhase J; Schnitzler A; Albrecht P; Minnerop M; Groiss SJ
Cerebellum; 2019 Oct; 18(5):969-971. PubMed ID: 31367947
[TBL] [Abstract][Full Text] [Related]
18. GABA(A) receptor-mediated miniature postsynaptic currents and alpha-subunit expression in developing cortical neurons.
Dunning DD; Hoover CL; Soltesz I; Smith MA; O'Dowd DK
J Neurophysiol; 1999 Dec; 82(6):3286-97. PubMed ID: 10601460
[TBL] [Abstract][Full Text] [Related]
19. THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.
Aguilo F; Zakirova Z; Nolan K; Wagner R; Sharma R; Hogan M; Wei C; Sun Y; Walsh MJ; Kelley K; Zhang W; Ozelius LJ; Gonzalez-Alegre P; Zwaka TP; Ehrlich ME
Stem Cell Reports; 2017 Jul; 9(1):92-107. PubMed ID: 28579396
[TBL] [Abstract][Full Text] [Related]
20. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
Cheng FB; Ozelius LJ; Wan XH; Feng JC; Ma LY; Yang YM; Wang L
J Neurol; 2012 Feb; 259(2):342-7. PubMed ID: 21800139
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
