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Page 1
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M, Ott F, Loens S, Kilic-Berkmen G, Tan AH, Lim SY, Lohmann E, Schröder KM, Ipsen L, Nothacker LA, Welzel L, Rudnik AS, Hinrichs F, Odorfer T, Zeuner KE, Schumann F, Kühn AA, Zittel S, Moeller M, Pfister R, Kamm C, Lang AE, Tay YW, de Almeida Marcelino AL, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Wagle Shukla AA, Espay AJ, LeDoux MS, Berman BD, Reich S, Deik A, Franke A, Wittig M, Franzenburg S, Volkmann J, Brüggemann N, Jinnah HA, Bäumer T, Klein C, Busch H, Lohmann K. Thomsen M, et al. Ann Clin Transl Neurol. 2025 Aug;12(8):1648-1659. doi: 10.1002/acn3.70100. Epub 2025 Jun 18. Ann Clin Transl Neurol. 2025. PMID: 40533913 Free PMC article.
The most frequently implicated genes included VPS16, THAP1, GCH1, SGCE, GNAL, and KMT2B. Presumably pathogenic variants in less well-established dystonia genes were also found, including KCNMA1, KIF1A, and ZMYND11. ...
The most frequently implicated genes included VPS16, THAP1, GCH1, SGCE, GNAL, and KMT2B. Presumably pathogenic variants in less well- …
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. Cheng F, et al. Brain. 2022 Nov 21;145(11):3968-3984. doi: 10.1093/brain/awac001. Brain. 2022. PMID: 35015830 Free article.
However, how THAP1 mutations lead to these gene expression alterations and whether the gene expression changes are also reflected in the brain of THAP1 patients are still unclear. In this study we used epigenetic and transcriptomic approaches combined with multiple …
However, how THAP1 mutations lead to these gene expression alterations and whether the gene expression changes are also reflected in …
The DYT6 dystonia causative protein THAP1 is responsible for proteasome activity via PSMB5 transcriptional regulation.
Wang Y, Wang Y, Iriki T, Hashimoto E, Inami M, Hashimoto S, Watanabe A, Takano H, Motosugi R, Hirayama S, Sugishita H, Gotoh Y, Yao R, Hamazaki J, Murata S. Wang Y, et al. Nat Commun. 2025 Feb 14;16(1):1600. doi: 10.1038/s41467-025-56867-x. Nat Commun. 2025. PMID: 39952963 Free PMC article.
We demonstrated that THAP1 directly regulates the expression of the PSMB5 gene, which encodes the central protease subunit beta5. Depletion of THAP1 disrupts proteasome assembly, leading to reduced proteasome activity and the accumulation of ubiquitinated proteins. …
We demonstrated that THAP1 directly regulates the expression of the PSMB5 gene, which encodes the central protease subunit beta5. Dep …
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. Diaw SH, et al. Neurogenetics. 2024 Apr;25(2):141-147. doi: 10.1007/s10048-024-00752-0. Epub 2024 Mar 18. Neurogenetics. 2024. PMID: 38498291
Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable expressivity and reduced penetrance of ~ 50%. Since THAP1 encodes a transcription factor, modifiers influencing this variability likely operate at the gene expression level. ...R …
Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable expressivity and reduced penetrance of ~ 50%. …
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
Atasu B, Simón-Sánchez J, Hanagasi H, Bilgic B, Hauser AK, Guven G, Heutink P, Gasser T, Lohmann E. Atasu B, et al. J Med Genet. 2024 Apr 19;61(5):443-451. doi: 10.1136/jmg-2022-109099. J Med Genet. 2024. PMID: 38458754 Free PMC article.
RESULTS: We identified potentially disease-causing variants in the established dystonia genes (PRKRA, SGCE, KMT2B, SLC2A1, GCH1, THAP1, HPCA, TSPOAP1, AOPEP; n=11 families (26%)), in the uncommon forms of dystonia-associated genes (PCCB, CACNA1A, ALDH5A1, PRKN; n=4 familie …
RESULTS: We identified potentially disease-causing variants in the established dystonia genes (PRKRA, SGCE, KMT2B, SLC2A1, GCH1, THAP1 …
Mapping the landscape of genetic dependencies in chordoma.
Sharifnia T, Wawer MJ, Goodale A, Lee Y, Kazachkova M, Dempster JM, Muller S, Levy J, Freed DM, Sommer J, Kalfon J, Vazquez F, Hahn WC, Root DE, Clemons PA, Schreiber SL. Sharifnia T, et al. Nat Commun. 2023 Apr 6;14(1):1933. doi: 10.1038/s41467-023-37593-8. Nat Commun. 2023. PMID: 37024492 Free PMC article.
This approach confirms a known chordoma dependency, TBXT (T; brachyury), and identifies a range of additional dependencies, including PTPN11, ADAR, PRKRA, LUC7L2, SRRM2, SLC2A1, SLC7A5, FANCM, and THAP1. CDK6, SOX9, and EGFR, genes previously implicated in chordoma biology …
This approach confirms a known chordoma dependency, TBXT (T; brachyury), and identifies a range of additional dependencies, including PTPN11 …
Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression.
Ramage DE, Grant DW, Timms RT. Ramage DE, et al. Nat Commun. 2025 Feb 10;16(1):1511. doi: 10.1038/s41467-025-56782-1. Nat Commun. 2025. PMID: 39929834 Free PMC article.
Exploiting the fact that the toxicity associated with loss of THAP1 can be rescued upon exogenous expression of PSMB5, we define the transcriptional targets of THAP1 through RNA-seq analysis and perform a deep mutational scan to systematically assess the function of …
Exploiting the fact that the toxicity associated with loss of THAP1 can be rescued upon exogenous expression of PSMB5, we define the …
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M, Marth K, Loens S, Everding J, Junker J, Borngräber F, Ott F, Jesús S, Gelderblom M, Odorfer T, Kuhlenbäumer G, Kim HJ, Schaeffer E, Becktepe J, Kasten M, Brüggemann N, Pfister R, Kollewe K, Krauss JK, Lohmann E, Hinrichs F, Berg D, Jeon B, Busch H, Altenmüller E, Mir P, Kamm C, Volkmann J, Zittel S, Ferbert A, Zeuner KE, Rolfs A, Bauer P, Kühn AA, Bäumer T, Klein C, Lohmann K. Thomsen M, et al. Mov Disord. 2024 Mar;39(3):526-538. doi: 10.1002/mds.29693. Epub 2024 Jan 12. Mov Disord. 2024. PMID: 38214203
CONCLUSION: This study confirms pathogenic variants in GCH1, GNAL, KMT2B, SGCE, THAP1, and TOR1A as relevant causes in dystonia and expands the mutational spectrum. Of note, likely pathogenic variants only in GCH1 were also found among PD patients. ...
CONCLUSION: This study confirms pathogenic variants in GCH1, GNAL, KMT2B, SGCE, THAP1, and TOR1A as relevant causes in dystonia and e …
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes.
Kaymak A, Colucci F, Ahmadipour M, Andreasi NG, Rinaldo S, Israel Z, Arkadir D, Telese R, Levi V, Zorzi G, Carpaneto J, Carecchio M, Prokisch H, Zech M, Garavaglia B, Bergman H, Eleopra R, Mazzoni A, Romito LM. Kaymak A, et al. Ann Neurol. 2025 May;97(5):826-844. doi: 10.1002/ana.27185. Epub 2025 Jan 30. Ann Neurol. 2025. PMID: 39887724 Free PMC article.
METHODS: Herein, we analyzed microelectrode recordings acquired during pallidal deep brain stimulation surgery from 31 dystonia patients with pathogenic mutations in the AOPEP, GNAL, KMT2B, PANK2, PLA2G6, SGCE, THAP1, TOR1A, and VPS16 genes. We identified 1,694 single unit …
METHODS: Herein, we analyzed microelectrode recordings acquired during pallidal deep brain stimulation surgery from 31 dystonia patients wit …
Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia.
Li LX, Liu Y, Huang JH, Yang Y, Pan YG, Zhang XL, Pan LZ, Jin LJ. Li LX, et al. Clin Genet. 2023 Apr;103(4):459-465. doi: 10.1111/cge.14298. Epub 2023 Jan 24. Clin Genet. 2023. PMID: 36648081
Eleven distinct genes were involved, of which TOR1A and THAP1 accounted for 47.37% (9/19) of the positive cases. A novel missense variant, p.S225R in TOR1A, was found in a patient with adolescence-onset generalized dystonia. ...In addition, we reviewed the clinical and gen …
Eleven distinct genes were involved, of which TOR1A and THAP1 accounted for 47.37% (9/19) of the positive cases. A novel missense var …
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