| DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family. | 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. | 11/26/2022 |
| A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding. | A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.
Yellajoshyula D, Rogers AE, Kim AJ, Kim S, Pappas SS, Dauer WT., Free PMC Article | 04/16/2022 |
| Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin. | 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., Free PMC Article | 11/27/2021 |
| Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model. | 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. | 09/4/2021 |
| Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6. | 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., Free PMC Article | 04/24/2021 |
| Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia. | 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., Free PMC Article | 01/23/2021 |
| 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. | 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., Free PMC Article | 06/23/2018 |
| The region of amino acids 139-185 is involved in formation of THAP1 homodimers. | 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. | 03/10/2018 |
| 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. | 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. | 01/13/2018 |
| that the THAP1 is likely to have a causative role in the pathogenesis of Indian primary pure dystonia patients | Genetic screening of THAP1 in primary dystonia patients of India.
Giri S, Naiya T, Equbal Z, Sankhla CS, Das SK, Ray K, Ray J. | 11/4/2017 |
| This study demonstrated that whole-exome sequencing show reveled THAP1 mutation with early-onset generalized dystonia. | Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, Wieland T, Lunetta C, Sansone V, Messner M, Mueller J, Ceballos-Baumann A, Strom TM, Colombo R, Poewe W, Haslinger B, Winkelmann J. | 08/26/2017 |
| 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. | Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.
de Gusmão CM, Fuchs T, Moses A, Multhaupt-Buell T, Song PC, Ozelius LJ, Franco RA, Sharma N., Free PMC Article | 07/22/2017 |
| A deleterious THAP1 mutation was identified in patients with idiopathic isolated dystonia. | New THAP1 mutation and role of putative modifier in TOR1A.
Piovesana LG, Torres FR, Azevedo PC, Amaral TP, Lopes-Cendes I, D'Abreu A. | 03/4/2017 |
| there might not be an association between TOR1A or THAP1 and patients with adult-onset primary focal dystonia | Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population.
Wang L, Duan C, Gao Y, Xu W, Ding J, Liu VT, Wu Y. | 12/17/2016 |
| findings strongly suggest the role of other genetic factors or environmental triggers in the pathogenesis of dystonia related to mutations in THAP1 gene. | High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.
Gajos A, Golańska E, Sieruta M, Szybka M, Liberski PP, Bogucki A. | 05/21/2016 |
| 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. | Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.
Golanska E, Gajos A, Sieruta M, Szybka M, Rudzinska M, Ochudlo S, Kmiec T, Liberski PP, Bogucki A., Free PMC Article | 04/16/2016 |
| THAP1 variants are an important cause of dystonia among individuals with an early-onset disease and a positive family history. | Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.
da Silva-Junior FP, dos Santos CO, Silva SM, Barbosa ER, Borges V, Ferraz HB, Limongi JC, Rocha MS, de Carvalho Aguiar P. | 05/16/2015 |
| This study demonistrated that Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia. | 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. | 04/4/2015 |
| this study identified a feedback-loop in the regulation of THAP1 expression and demonstrated that mutant THAP1 leads to higher THAP1 expression levels. | 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. | 01/17/2015 |
| 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. | 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., Free PMC Article | 12/20/2014 |
| This study suggest that the clinical disease course in dystonia patients with mutation of THAP1 in Japanese' | DYT6 in Japan-genetic screening and clinical characteristics of the patients.
Miyamoto R, Koizumi H, Morino H, Kawarai T, Maruyama H, Mukai Y, Miyashiro A, Sako W, Izumi Y, Kawakami H, Kaji R. | 11/8/2014 |
| Our results indicate that certain mutations in the THAP1 gene may lead to primary dystonia with remarkable intrafamilial clinical variability. | 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. | 10/25/2014 |
| deletion of SLC20A2 and THAP1 may have a role in familial basal ganglia calcification with dystonia [case report and family study] | SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.
Baker M, Strongosky AJ, Sanchez-Contreras MY, Yang S, Ferguson W, Calne DB, Calne S, Stoessl AJ, Allanson JE, Broderick DF, Hutton ML, Dickson DW, Ross OA, Wszolek ZK, Rademakers R., Free PMC Article | 09/13/2014 |
| Current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc. | [Dystonia genes and elucidation of their roles in dystonia pathogenesis].
Kawarai T, Miyamoto R, Murakami N, Miyazaki Y, Koizumi H, Sako W, Mukai Y, Sato K, Matsumoto S, Sakamoto T, Izumi Y, Kaji R. | 03/1/2014 |
| 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. | 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.
Lu C, Li JY, Ge Z, Zhang L, Zhou GP., Free PMC Article | 02/22/2014 |