Recombinant Human THAP domain-containing protein 1 (THAP1)

1. Dysfunction in similar pathways occurring with mutations in THAP1 as well as diverse dystonia genes highlight a point of convergence in the pathophysiology of several forms of inherited dystonia. PMID: 29364887
2. The region of amino acids 139-185 is involved in formation of THAP1 homodimers. PMID: 28299530
3. We functionally characterized for the first time three dystonia-causing missense variants (p.N136K, p.N136S and p.Y137C) within the HBM in the C-terminal region of THAP1. Dystonia-causing mutations affecting the residues N136 and Y137 in THAP1 significantly reduced HCFC1 recruitment to all four tested promoter regions. PMID: 28486698
4. that the THAP1 is likely to have a causative role in the pathogenesis of Indian primary pure dystonia patients PMID: 27913194
5. This study demonstrated that whole-exome sequencing show reveled THAP1 mutation with early-onset generalized dystonia. PMID: 27666935
6. Genetic screening targeted at currently known disease-causing mutations in TOR1A, THAP1, and TUBB4 appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1. PMID: 27188707
7. A deleterious THAP1 mutation was identified in patients with idiopathic isolated dystonia. PMID: 26940431
8. there might not be an association between TOR1A or THAP1 and patients with adult-onset primary focal dystonia PMID: 26803725
9. findings strongly suggest the role of other genetic factors or environmental triggers in the pathogenesis of dystonia related to mutations in THAP1 gene. PMID: 25385508
10. The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia. It shows known and novel substitutions. PMID: 26087139
11. THAP1 variants are an important cause of dystonia among individuals with an early-onset disease and a positive family history. PMID: 24976531
12. This study demonistrated that Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia. PMID: 24862462
13. this study identified a feedback-loop in the regulation of THAP1 expression and demonstrated that mutant THAP1 leads to higher THAP1 expression levels. PMID: 25088175
14. Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion. PMID: 24500857
15. This study suggest that the clinical disease course in dystonia patients with mutation of THAP1 in Japanese' PMID: 24227593
16. Our results indicate that certain mutations in the THAP1 gene may lead to primary dystonia with remarkable intrafamilial clinical variability. PMID: 25168324
17. deletion of SLC20A2 and THAP1 may have a role in familial basal ganglia calcification with dystonia [case report and family study] PMID: 24135862
18. Current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc. PMID: 23782819
19. 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. PMID: 23975424
20. The genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical regions that are usually spared in DYT1-primary dystonia. PMID: 23180184
21. Our findings indicate that THAP1 mutations are very rare in blepharospasm PMID: 23036512
22. Truncated THAP1 mutations (F22fs71X and F25fs53X) can alter subcellular distributions in DYT6 dystonia, while some missense mutations (C54F and L180S) cannot. PMID: 22652465
23. in dystonia DYT1 and DYT6 gene mutation carriers, diffusion tensor imaging detected fewer fibers in the cerebello-thalamo-cortical pathways PMID: 22987473
24. This study supported that THAP1 mutations are an important cause of dystonia. PMID: 22903657
25. this study demonstrated marked intrafamilial variations of dystonia in a single Japanese family with DYT6 and limited efficiency of deep brain stimulation. PMID: 22821615
26. Evaluation of the effect of missense mutations, within the THAP domain, on the structure, stability and DNA binding. PMID: 22844099
27. The role of THAP1 as a major genetic modifier in DYT1 dystonia and suggest the presence of other genetic or environmental factors that may influence the manifestation of DYT1 dystonia. PMID: 22508326
28. THAP domain of THAP1 tend to manifest at an earlier age and exhibit more extensive anatomical distributions than mutations localized to other regions of THAP1. PMID: 22377579
29. THAP1 mutations do not seem to play a major role in primary focal/segmental dystonia in this sample of southern German origin. PMID: 21782490
30. Mutation frequency of the THAP1 gene is 0.87% in Chinese patients with primary pure dystonia, similar to the mutation frequency found in other ethnic groups. PMID: 21839475
31. the THAP1 gene to colligate all reported patients with a specific THAP1 mutation and the associated clinical signs in order to describe the broad phenotypic continuum of DYT6 dystonia ( THAP1 ) PMID: 21793105
32. One silent mutation (c.267G>A) was shown to affect THAP1 expression. PMID: 21800139
33. THAP1 mutations are rare in unselected dystonia patients and functional analysis is necessary to distinguish between benign variants and pathogenic mutations. PMID: 21847143
34. This study demonistrated that THAP1 mutations are infrequent in spasmodic dysphonia in Dutch patient. PMID: 21538522
35. This study demonistrated that Truncating mutations in THAP1 define the nuclear localization signal. PMID: 21495072
36. The results of this study suggested that No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia. PMID: 21638323
37. Genetic analysis of the entire genomic region of THAP1 revealed a novel variant that was specific for African-Americans PMID: 21601506
38. this study presented that the DYT6 phenotypes in association with new THAP1 frameshift mutations. PMID: 21520283
39. These observations offer additional insight into the role of the coiled-coil domain in THAP1, which may facilitate future analyses of DYT6 mutations in this region PMID: 21752024
40. The data of this study suggested that homozygous THAP1 mutations cause dystonia and may be associated with a less severe dysfunction of the encoded protein compared with heterozygous disease-causing mutations. PMID: 21425335
41. This study indicated that the c.-237_236GA>TT THAP1 sequence variant does not increase risk for adult-onset primary dystonia in Caucasians. PMID: 21370264
42. Three subjects were found to have the GAG deletion in the TOR1A gene, and two patients were detected with THAP1 gene mutations/variations PMID: 20825472
43. found five heterozygous mutations in THAP1 in autosomal dominant primary torsion dystonia 6 PMID: 21110056
44. Mutations in these two known primary torsion dystonia (PTD) genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. PMID: 20925076
45. The variant of THAP1( c.71+9C>A) in intron 19 was found in 3 late onset dystonia patients (0.6%) and one control subject (0.5%). PMID: 20687191
46. These findings suggest that THAP1 sequence variations in primary dystonia seem to be associated with different ages of onset and distribution of symptoms PMID: 20669277
47. This study demonstrated a physical interaction between THAP1 and the TOR1A promoter that is abolished by pathophysiologic mutations. PMID: 20865765
48. The THAP zinc finger uses its double-stranded beta-sheet to fill the DNA major groove and provides a unique combination of contacts from the beta-sheet, the N-terminal tail and surrounding loops toward the five invariant base pairs of the THABS sequence PMID: 20144952
49. THAP1 mediates the recruitment of HCF-1 to the RRM1 promoter during endothelial cell proliferation and that HCF-1 is essential for transcriptional activation of RRM1. PMID: 20200153
50. These data suggest that early-onset dystonia that includes the involvement of the larynx or face is frequently associated with THAP1 mutations. PMID: 20211909

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HGNC: 20856

OMIM: 602629

KEGG: hsa:55145

STRING: 9606.ENSP00000254250

UniGene: Hs.7432