THAP1

Summary

Gene Symbol: THAP1
Description: THAP domain containing 1
Alias: DYT6, THAP domain-containing protein 1, 4833431A01Rik, THAP domain containing, apoptosis associated protein 1, THAP domain protein 1, nuclear proapoptotic factor
Species: human
Products:     THAP1

Top Publications

  1. Ledoux M, Xiao J, Rudzinska M, Bastian R, Wszolek Z, Van Gerpen J, et al. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord. 2012;18:414-25 pubmed publisher
    An extensive variety of THAP1 sequence variants have been associated with focal, segmental and generalized dystonia with age of onset ranging from 3 to over 60 years...
  2. Bonetti M, Barzaghi C, Brancati F, Ferraris A, Bellacchio E, Giovanetti A, et al. Mutation screening of the DYT6/THAP1 gene in Italy. Mov Disord. 2009;24:2424-7 pubmed publisher
    Mutations in the THAP1 gene on chromosome 8p21-p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish-Mennonite families and in 12 additional probands of different ..
  3. Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, et al. Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet. 2012;20:171-5 pubmed publisher
    Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the expression of DYT1...
  4. Houlden H, Schneider S, Paudel R, Melchers A, Schwingenschuh P, Edwards M, et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology. 2010;74:846-50 pubmed publisher
    The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total of 13 mutations have been identified in Amish-Mennonite and European families...
  5. Mazars R, Gonzalez de Peredo A, Cayrol C, Lavigne A, Vogel J, Ortega N, et al. The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias. J Biol Chem. 2010;285:13364-71 pubmed publisher
    b>THAP1 is a sequence-specific DNA binding factor that regulates cell proliferation through modulation of target genes such as the cell cycle-specific gene RRM1...
  6. Djarmati A, Schneider S, Lohmann K, Winkler S, Pawlack H, Hagenah J, et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol. 2009;8:447-52 pubmed publisher
    ..Recently, two mutations in THAP1, the gene that encodes THAP (thanatos-associated protein) domain-containing apoptosis-associated protein 1 (THAP1),..
  7. Puschmann A, Xiao J, Bastian R, Searcy J, Ledoux M, Wszolek Z. An African-American family with dystonia. Parkinsonism Relat Disord. 2011;17:547-50 pubmed publisher
    ..Recently, mutations in Thanatos-associated protein domain containing, apoptosis associated protein 1 (THAP1) have been described in DYT6 dystonia and associated with some cases of familial and sporadic late-onset dystonia ..
  8. Blanchard A, Ea V, Roubertie A, Martin M, Coquart C, Claustres M, et al. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat. 2011;32:1213-24 pubmed publisher
    By family-based screening, first Fuchs and then many other authors showed that mutations in THAP1 (THAP [thanatos-associated protein] domain-containing, apoptosis-associated protein 1) account for a substantial proportion of familial, ..
  9. de Carvalho Aguiar P, Fuchs T, Borges V, Lamar K, Silva S, Ferraz H, et al. Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion. Mov Disord. 2010;25:2854-7 pubmed publisher
    The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD)...

More Information

Publications82

  1. Xiao J, Zhao Y, Bastian R, Perlmutter J, Racette B, Tabbal S, et al. Novel THAP1 sequence variants in primary dystonia. Neurology. 2010;74:229-38 pubmed publisher
    b>THAP1 encodes a transcription factor (THAP1) that harbors an atypical zinc finger domain and regulates cell proliferation. An exon 2 insertion/deletion frameshift mutation in THAP1 is responsible for DYT6 dystonia in Amish-Mennonites...
  2. Roussigne M, Cayrol C, Clouaire T, Amalric F, Girard J. THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies. Oncogene. 2003;22:2432-42 pubmed
    ..Here, we report that THAP1 is a novel nuclear proapoptotic factor associated with PML NBs, which potentiates both serum withdrawal- and TNF alpha-induced apoptosis, and ..
  3. Kaiser F, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol. 2010;68:554-9 pubmed publisher
    Mutations in THAP1 have been associated with dystonia 6. THAP1 encodes a transcription factor with mostly unknown targets. We tested the hypothesis that THAP1 regulates the expression of DYT1 (TOR1A), another dystonia-causing gene...
  4. Campagne S, Saurel O, Gervais V, Milon A. Structural determinants of specific DNA-recognition by the THAP zinc finger. Nucleic Acids Res. 2010;38:3466-76 pubmed publisher
    Human THAP1 is the prototype of a large family of cellular factors sharing an original THAP zinc-finger motif responsible for DNA binding...
  5. Sabogal A, Lyubimov A, Corn J, Berger J, Rio D. THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves. Nat Struct Mol Biol. 2010;17:117-23 pubmed publisher
    ..Sequence analysis of natural and in vitro-selected binding sites suggests that several THAPs (DmTHAP and human THAP1 and THAP9) recognize a bipartite TXXGGGX(A/T) consensus motif; homology suggests THAP proteins bind DNA through a ..
  6. Schneider S, Ramirez A, Shafiee K, Kaiser F, Erogullari A, Brüggemann N, et al. Homozygous THAP1 mutations as cause of early-onset generalized dystonia. Mov Disord. 2011;26:858-61 pubmed publisher
    ..This revealed 2 candidate regions including the THAP1 gene, where heterozygous mutations cause dystonia 6. A homozygous missense mutation in THAP1 (c.95T>A; p...
  7. Fuchs T, Gavarini S, Saunders Pullman R, Raymond D, Ehrlich M, Bressman S, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet. 2009;41:286-8 pubmed publisher
    We report the discovery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion dystonia (also known as DYT6 dystonia)...
  8. Bessière D, Lacroix C, Campagne S, Ecochard V, Guillet V, Mourey L, et al. Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways. J Biol Chem. 2008;283:4352-63 pubmed
    b>THAP1, the founding member of a previously uncharacterized large family of cellular proteins (THAP proteins), is a sequence-specific DNA-binding factor that has recently been shown to regulate cell proliferation through modulation of pRb/..
  9. Cayrol C, Lacroix C, Mathe C, Ecochard V, Ceribelli M, Loreau E, et al. The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes. Blood. 2007;109:584-94 pubmed
    We recently cloned a novel human nuclear factor (designated THAP1) from postcapillary venule endothelial cells (ECs) that contains a DNA-binding THAP domain, shared with zebrafish E2F6 and several Caenorhabditis elegans proteins ..
  10. Clouaire T, Roussigne M, Ecochard V, Mathe C, Amalric F, Girard J. The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity. Proc Natl Acad Sci U S A. 2005;102:6907-12 pubmed
    ..approximately 100 distinct THAP proteins in model animal organisms, including human nuclear proapoptotic factors THAP1 and DAP4/THAP0, transcriptional repressor THAP7, zebrafish orthologue of cell cycle regulator E2F6, and ..
  11. Groen J, Ritz K, Contarino M, van de Warrenburg B, Aramideh M, Foncke E, et al. DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord. 2010;25:2420-7 pubmed publisher
    Mutations in THAP1, a gene encoding a nuclear pro-apoptotic protein, have been associated with DYT6 dystonia...
  12. Cheng F, Ozelius L, Wan X, Feng J, Ma L, Yang Y, et al. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. J Neurol. 2012;259:342-7 pubmed publisher
    Mutations in the THAP1 gene were recently identified as the cause of DYT6 primary dystonia. More than 40 mutations in this gene have been described in different populations...
  13. Roussigne M, Kossida S, Lavigne A, Clouaire T, Ecochard V, Glories A, et al. The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase. Trends Biochem Sci. 2003;28:66-9 pubmed
    ..Our results suggest that the THAP domain is a novel example of a DBD that is shared between cellular proteins and transposases from mobile genomic parasites. ..
  14. Bressman S, Raymond D, Fuchs T, Heiman G, Ozelius L, Saunders Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 2009;8:441-6 pubmed publisher
    Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Amish-Mennonite families, and a different mutation was identified in another family of European descent...
  15. Söhn A, Glöckle N, Doetzer A, Deuschl G, Felbor U, Topka H, et al. Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord. 2010;25:1982-6 pubmed publisher
    ..Only recently, mutations in THAP1 have been shown to be the cause of DYT6 dystonia...
  16. Cheng F, Wan X, Feng J, Wang L, Yang Y, Cui L. Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. Eur J Neurol. 2011;18:497-503 pubmed publisher
    ..DYT1 is caused by a mutation in the TOR1A gene, whilst mutations in THAP1 gene have been identified as responsible for DYT6...
  17. Gavarini S, Cayrol C, Fuchs T, Lyons N, Ehrlich M, Girard J, et al. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol. 2010;68:549-53 pubmed publisher
    ..TOR1A(DYT1) and the transcription factor THAP1(DYT6) are the only genes identified thus far for primary dystonia...
  18. Ruiz M, Perez Garcia G, Ortiz Virumbrales M, Méneret A, Morant A, Kottwitz J, et al. Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia. Hum Mol Genet. 2015;24:7159-70 pubmed publisher
    DYT6 dystonia is caused by mutations in THAP1 [Thanatos-associated (THAP) domain-containing apoptosis-associated protein] and is autosomal dominant and partially penetrant...
  19. Balint B, Mencacci N, Valente E, Pisani A, Rothwell J, Jankovic J, et al. Dystonia. Nat Rev Dis Primers. 2018;4:25 pubmed publisher
    ..In some of the most common genetic dystonias, such as those caused by TOR1A, THAP1, GCH1 and KMT2B mutations, and idiopathic dystonia, these mechanisms include abnormalities in transcriptional ..
  20. Dauer W. Inherited isolated dystonia: clinical genetics and gene function. Neurotherapeutics. 2014;11:807-16 pubmed publisher
    ..Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL).
  21. Peall K, Smith D, Kurian M, Wardle M, Waite A, Hedderly T, et al. SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain. 2013;136:294-303 pubmed publisher
    ..In those patients where no mutation was found TOR1A (GAG deletion), GCH1, THAP1 and NKX2-1 were also sequenced...
  22. Baumann H, Jahn M, Muenchau A, Trilck Winkler M, Lohmann K, Seibler P. Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers. Stem Cell Res. 2018;33:60-64 pubmed publisher
    Mutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) cause a form of early-onset, isolated dystonia (DYT-THAP1, aka DYT6)...
  23. Jurek M, Hoffman Zacharska D, Koziorowski D, MÄ…dry J, Friedman A, Bal J. Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene. Neurol Neurochir Pol. 2014;48:254-7 pubmed publisher
    Mutations localized in THAP1 gene, locus 18p11.21 have been reported as causative of primary dystonia type 6 (DYT6)...
  24. Aguilo F, Zakirova Z, Nolan K, Wagner R, Sharma R, Hogan M, et al. THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation. Stem Cell Reports. 2017;9:92-107 pubmed publisher
    b>THAP1 (THAP [Thanatos-associated protein] domain-containing, apoptosis-associated protein 1) is a ubiquitously expressed member of a family of transcription factors with highly conserved DNA-binding and protein-interacting regions...
  25. Osmanovic A, Dendorfer A, Erogullari A, Uflacker N, Braunholz D, Rakovic A, et al. Truncating mutations in THAP1 define the nuclear localization signal. Mov Disord. 2011;26:1565-7 pubmed publisher
  26. Ortiz Virumbrales M, Ruiz M, Hone E, Dolios G, Wang R, Morant A, et al. Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions. Acta Neuropathol Commun. 2014;2:139 pubmed publisher
    Mutations in THAP1 result in dystonia type 6, with partial penetrance and variable phenotype...
  27. Miyamoto R, Ohta E, Kawarai T, Koizumi H, Sako W, Izumi Y, et al. Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion. Mov Disord. 2012;27:1324-5 pubmed publisher
  28. de Gusmao C, Fuchs T, Moses A, Multhaupt Buell T, Song P, Ozelius L, et al. Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. Otolaryngol Head Neck Surg. 2016;155:624-8 pubmed publisher
    ..mutations previously associated with spasmodic dysphonia were screened: TOR1A (DYT1), TUBB4 (DYT4), and THAP1 (DYT6). Eighty-six patients were recruited, comprising 77% females and 23% males...
  29. Paudel R, Li A, Hardy J, Bhatia K, Houlden H, Holton J. DYT6 Dystonia: A Neuropathological Study. Neurodegener Dis. 2016;16:273-8 pubmed publisher
    Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6)...
  30. Erogullari A, Hollstein R, Seibler P, Braunholz D, Koschmidder E, Depping R, et al. THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression. Biochim Biophys Acta. 2014;1839:1196-204 pubmed publisher
    b>THAP1 encodes a transcription factor but its regulation is largely elusive. TOR1A was shown to be repressed by THAP1 in vitro. Notably, mutations in both of these genes lead to dystonia (DYT6 or DYT1)...
  31. Cheng F, Wan X, Feng J, Ma L, Hou B, Feng F, et al. Subcellular distribution of THAP1 and alterations in the microstructure of brain white matter in DYT6 dystonia. Parkinsonism Relat Disord. 2012;18:978-82 pubmed publisher
    Mutations in the THAP1 gene have recently been identified as the cause of DYT6 primary dystonia. However, the changes in THAP1 gene function and in the microstructure of brain white matter have not been well-characterized...
  32. Krause P, Brüggemann N, Völzmann S, Horn A, Kupsch A, Schneider G, et al. Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. J Neurol. 2015;262:2739-44 pubmed publisher
    ..patients belonging to the same family with early-onset generalized or segmental dystonia due to a heterozygous THAP1 gene mutation (DYT6). All patients showed an initial effective response to pallidal DBS with a mean of 56...
  33. dos Santos C, Masuho I, da Silva Júnior F, Barbosa E, Silva S, Borges V, et al. Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function. J Neurol. 2016;263:665-8 pubmed publisher
    ..Ninety-one patients with isolated idiopathic dystonia, negative for THAP1 and TOR1A mutations, were screened for GNAL variants by Sanger sequencing...
  34. Xiao J, Thompson M, Vemula S, Ledoux M. Blepharospasm in a multiplex African-American pedigree. J Neurol Sci. 2016;362:299-303 pubmed publisher
    ..Although sequence variants (SVs) in THAP1 have been reported in rare cases of BSP, the genetic causes of this focal dystonia remain largely unknown...
  35. Zech M, Lam D, Francescatto L, Schormair B, Salminen A, Jochim A, et al. Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am J Hum Genet. 2015;96:883-93 pubmed publisher
    ..Although autosomal-dominant mutations in TOR1A, THAP1, and GNAL have been found in some cases, the molecular mechanisms underlying isolated dystonia are largely unknown...
  36. Weisheit C, Pappas S, Dauer W. Inherited dystonias: clinical features and molecular pathways. Handb Clin Neurol. 2018;147:241-254 pubmed publisher
    ..This chapter focuses on the current data covering the etiology and epidemiology, clinical presentation, and pathogenesis of four monogenic forms of isolated dystonia: DYT-TOR1A, DYT-THAP1, DYT-GCH1, and DYT-GNAL.
  37. Putzel G, Fuchs T, Battistella G, Rubien Thomas E, Frucht S, Blitzer A, et al. GNAL mutation in isolated laryngeal dystonia. Mov Disord. 2016;31:750-5 pubmed publisher
    ..we screened 57 patients with isolated laryngeal dystonia for mutations in known dystonia genes TOR1A (DYT1), THAP1 (DYT6), TUBB4A (DYT4), and GNAL (DYT25)...
  38. Asanuma K, Carbon Correll M, Eidelberg D. Neuroimaging in human dystonia. J Med Invest. 2005;52 Suppl:272-9 pubmed
    ..This presentation will focus on an integrated approach to understanding the pathophysiology of this genetic and biochemically diverse disorder. ..
  39. Piovesana L, Torres F, Azevedo P, Amaral T, Lopes Cendes I, D Abreu A. New THAP1 mutation and role of putative modifier in TOR1A. Acta Neurol Scand. 2017;135:183-188 pubmed publisher
    The prevalence of DYT1 (mutation in TOR1A) and DYT6 (mutation in THAP1) may vary in different populations, which can have important implications in clinical investigation...
  40. Saunders Pullman R, Fuchs T, San Luciano M, Raymond D, Brashear A, Ortega R, et al. Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. Mov Disord. 2014;29:812-8 pubmed publisher
    A founder mutation in the Thanatos-associated (THAP) domain containing, apoptosis associated protein 1 (THAP1) gene causing primary dystonia was originally described in the Amish-Mennonites...
  41. Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, et al. Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. Mov Disord. 2017;32:549-559 pubmed publisher
    ..Reflecting locus heterogeneity, identified unique variants were distributed over 5 genes (GCH1, THAP1, TOR1A, ANO3, ADCY5), of which only 1 (ANO3) was mutated recurrently...
  42. Wang L, Duan C, Gao Y, Xu W, Ding J, Liu V, et al. Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population. Clin Neurol Neurosurg. 2016;142:26-30 pubmed publisher
    TOR1A (torsin family 1, member A) and THAP1 (THAP domain containing, apoptosis associated protein 1) are two candidate genes that have been reported to be linked to adult-onset primary dystonia...
  43. Lu C, Li J, Ge Z, Zhang L, Zhou G. Par-4/THAP1 complex and Notch3 competitively regulated pre-mRNA splicing of CCAR1 and affected inversely the survival of T-cell acute lymphoblastic leukemia cells. Oncogene. 2013;32:5602-13 pubmed publisher
    ..Here, we report that the cooperative synergy between prostate apoptosis response factor-4 (Par-4) and THAP1 induces cell cycle and apoptosis regulator 1 (CCAR1) gene expression and cellular apoptosis in human T-ALL cell ..
  44. Xiromerisiou G, Dardiotis E, Tsironi E, Hadjigeorgiou G, Ralli S, Kara E, et al. THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism Relat Disord. 2013;19:404-5 pubmed publisher
  45. Xiao J, Zhao Y, Bastian R, Perlmutter J, Racette B, Tabbal S, et al. The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. Mov Disord. 2011;26:549-52 pubmed publisher
    Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia...
  46. Kamm C, Uflacker N, Asmus F, Schrader C, Wolters A, Wittstock M, et al. No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia. Mov Disord. 2011;26:2136-7 pubmed publisher
  47. Kawarai T, Miyamoto R, Murakami N, Miyazaki Y, Koizumi H, Sako W, et al. [Dystonia genes and elucidation of their roles in dystonia pathogenesis]. Rinsho Shinkeigaku. 2013;53:419-29 pubmed
    ..It has been reported that effects of deep brain stimulation can vary significantly depending on genotype. Accumulation of genotype-outcome correlations would contribute to treatment decisions for dystonia patients. ..
  48. Xiromerisiou G, Houlden H, Scarmeas N, Stamelou M, Kara E, Hardy J, et al. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 2012;27:1290-4 pubmed publisher
    b>THAP1 mutations have been shown to be the cause of DYT6...
  49. Song W, Chen Y, Huang R, Chen K, Pan P, Yang Y, et al. Novel THAP1 gene mutations in patients with primary dystonia from southwest China. J Neurol Sci. 2011;309:63-7 pubmed publisher
    Clinical presentation and DYT6/THAP1 mutations among Chinese patients with primary dystonia have not been well studied...
  50. Almasy L, Bressman S, Raymond D, Kramer P, Greene P, Heiman G, et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol. 1997;42:670-3 pubmed
    ..We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8...
  51. da Silva Júnior F, dos Santos C, Silva S, Barbosa E, Borges V, Ferraz H, et al. Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. J Neurol Sci. 2014;344:190-2 pubmed publisher
    b>THAP1 mutations are associated with idiopathic isolated dystonia in different ethnicities, but the importance of this gene as a cause of dystonia in the Brazilian population has not been determined...
  52. Golanska E, Gajos A, Sieruta M, Szybka M, Rudzinska M, Ochudlo S, et al. Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions. PLoS ONE. 2015;10:e0129656 pubmed publisher
    ..We sequenced THAP1 exons 1, 2 and 3 including exon-intron boundaries and 5'UTR fragment in 96 non-DYT1 dystonia patients...
  53. Saunders Pullman R, Raymond D, Senthil G, Kramer P, Ohmann E, Deligtisch A, et al. Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. Am J Med Genet A. 2007;143A:2098-105 pubmed
    The DYT6 gene for primary torsion dystonia (PTD) was mapped to chromosome 8p21-q22 in two Amish-Mennonite families who shared a haplotype of marker alleles across a 40 cM linked region...
  54. Dobričić V, Kresojević N, Svetel M, Janković M, Petrovic I, Tomić A, et al. Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia. J Neurol. 2013;260:1037-42 pubmed publisher
    ..Besides DYT1/TOR1A gene, DYT6/THAP1 gene is the second gene known to cause primary pure dystonia...
  55. Sengel C, Gavarini S, Sharma N, Ozelius L, Bragg D. Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain. J Neurochem. 2011;118:1087-100 pubmed publisher
    Thanatos-associated [THAP] domain-containing apoptosis-associated protein 1 (THAP1) is a DNA-binding protein that has been recently associated with DYT6 dystonia, a hereditary movement disorder involving sustained, involuntary muscle ..
  56. Hollstein R, Reiz B, Kötter L, Richter A, Schaake S, Lohmann K, et al. Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression. Hum Mol Genet. 2017;26:2975-2983 pubmed publisher
    Thanatos-associated protein domain containing, apoptosis-associated protein 1 (THAP1), the gene mutated in DYT6 dystonia, encodes a transcription factor...
  57. Richter A, Hollstein R, Hebert E, Vulinović F, Eckhold J, Osmanovic A, et al. In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. J Mol Neurosci. 2017;62:11-16 pubmed publisher
    Mutations in the THAP1 gene encoding the transcription factor THAP1 have been shown to cause DYT6 dystonia...
  58. Carbon M, Su S, Dhawan V, Raymond D, Bressman S, Eidelberg D. Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. Neurology. 2004;62:1384-90 pubmed
    ..FDG PET was used to scan 12 nonmanifesting and 11 manifesting DYT1 gene carriers, 6 nonmanifesting DYT6 gene carriers and 7 manifesting DYT6 gene carriers, as well as 11 control subjects...
  59. Gajos A, Golańska E, Sieruta M, Szybka M, Liberski P, Bogucki A. High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. Int J Neurosci. 2015;125:755-9 pubmed publisher
    Mutations in the THAP1 gene are associated with a broad spectrum of dystonia including focal and generalized forms...
  60. Baker M, Strongosky A, Sanchez Contreras M, Yang S, Ferguson W, Calne D, et al. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics. 2014;15:23-30 pubmed publisher
    ..precise breakpoints on chromosome 8 affecting multiple genes including SLC20A2 and the known dystonia-related gene THAP1. The deletion co-segregated with disease in all family members...
  61. Yellajoshyula D, Liang C, Pappas S, Penati S, Yang A, Mecano R, et al. The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage. Dev Cell. 2017;42:52-67.e4 pubmed publisher
    ..The childhood-onset motor disorder DYT6 dystonia is caused by loss-of-function mutations in the transcription factor THAP1, but the neurodevelopmental processes in which THAP1 participates are unknown...
  62. Paisan Ruiz C, Ruiz Martinez J, Ruibal M, Mok K, Indakoetxea B, Gorostidi A, et al. Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. Mov Disord. 2009;24:2428-9 pubmed publisher
  63. Clot F, Grabli D, Burbaud P, Aya M, Derkinderen P, Defebvre L, et al. Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. Neurogenetics. 2011;12:87-9 pubmed publisher
  64. Carbon M, Niethammer M, Peng S, Raymond D, Dhawan V, Chaly T, et al. Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia. Neurology. 2009;72:2097-103 pubmed publisher
    ..Manifesting and nonmanifesting carriers of the DYT1 and DYT6 dystonia mutations were scanned with [(11)C] raclopride (RAC) and PET...
  65. Campagne S, Muller I, Milon A, Gervais V. Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1. Nucleic Acids Res. 2012;40:9927-40 pubmed publisher
    The transcription factor THAP1 (THanatos Associated Protein 1) has emerged recently as the cause of DYT6 primary dystonia, a type of rare, familial and mostly early-onset syndrome that leads to involuntary muscle contractions...
  66. Giri S, Naiya T, Equbal Z, Sankhla C, Das S, Ray K, et al. Genetic screening of THAP1 in primary dystonia patients of India. Neurosci Lett. 2017;637:31-37 pubmed publisher
    ..In this study we analyzed THAP1 (DYT 6) gene in primary pure dystonia patients, which has been widely studied in other populations but not in ..
  67. Groen J, Yildirim E, Ritz K, Baas F, Van Hilten J, van der Meulen F, et al. THAP1 mutations are infrequent in spasmodic dysphonia. Mov Disord. 2011;26:1952-4 pubmed publisher
  68. Kaffe M, Gross N, Castrop F, Dresel C, Gieger C, Lichtner P, et al. Mutational screening of THAP1 in a German population with primary dystonia. Parkinsonism Relat Disord. 2012;18:104-6 pubmed publisher
  69. Blanchard A, Roubertie A, Simonetta Moreau M, Ea V, Coquart C, Frédéric M, et al. Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. Mov Disord. 2011;26:1775-7 pubmed publisher
  70. Palada V, Stiern S, Glöckle N, Gomez Garre P, Carrillo F, Mir P, et al. Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients. Mov Disord. 2012;27:917 pubmed publisher
  71. Vo A, Argyelan M, Eidelberg D, Ulug A. Early registration of diffusion tensor images for group tractography of dystonia patients. J Magn Reson Imaging. 2013;37:67-75 pubmed publisher
    ..Twelve dystonia patients manifesting the disease, seven nonmanifesting dystonia mutation carriers (DYT1 and DYT6 gene mutations), and eight age-matched normal control subjects were imaged for a previous study...
  72. Miyamoto R, Koizumi H, Morino H, Kawarai T, Maruyama H, Mukai Y, et al. DYT6 in Japan-genetic screening and clinical characteristics of the patients. Mov Disord. 2014;29:278-80 pubmed publisher
  73. Cheng F, Feng J, Ma L, Miao J, Ott T, Wan X, et al. Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia. Mov Disord. 2014;29:1079-83 pubmed publisher
    ..581A>T, p.Asp194Val) was found in a patient with early-onset segmental dystonia harboring a THAP1 mutation (c.539T>C, p.Leu180Ser)...