BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

298 related articles for article (PubMed ID: 29364887)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
    Bressman SB; Raymond D; Fuchs T; Heiman GA; Ozelius LJ; Saunders-Pullman R
    Lancet Neurol; 2009 May; 8(5):441-6. PubMed ID: 19345147
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions.
    Ortiz-Virumbrales M; Ruiz M; Hone E; Dolios G; Wang R; Morant A; Kottwitz J; Ozelius LJ; Gandy S; Ehrlich ME
    Acta Neuropathol Commun; 2014 Sep; 2():139. PubMed ID: 25231164
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
    Houlden H; Schneider SA; Paudel R; Melchers A; Schwingenschuh P; Edwards M; Hardy J; Bhatia KP
    Neurology; 2010 Mar; 74(10):846-50. PubMed ID: 20211909
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
    Cheng FB; Wan XH; Feng JC; Wang L; Yang YM; Cui LY
    Eur J Neurol; 2011 Mar; 18(3):497-503. PubMed ID: 20825472
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.