ArticleAnnals of neurology2010
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Article in Annals of neurology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 97 citations in OpenAlex.
- Dystonia: Insights into Mechanisms and Novel Therapeutics.Current neurology and neuroscience reports · 2026Review
- DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.Neurogenetics · 2024Article
- Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes inMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.The Journal of physiology · 2021Article
- Reduced Expression of GABAFrontiers in cell and developmental biology · 2021Article
- Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.Journal of molecular neuroscience : MN · 2020Article
- Diverse Mechanisms Lead to Common Dysfunction of Striatal Cholinergic Interneurons in Distinct Genetic Mouse Models of Dystonia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassingBMJ case reports · 2019Article
- Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes.Human molecular genetics · 2019Article
- Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.PLoS genetics · 2018Article
- THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.Stem cell reports · 2017Article
- Update on the Genetics of Dystonia.Current neurology and neuroscience reports · 2017Review
- Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.Human molecular genetics · 2015Article
- Inherited isolated dystonia: clinical genetics and gene function.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2014Review
- Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions.Acta neuropathologica communications · 2014Article
- Pvr expression regulators in equilibrium signal control and maintenance of Drosophila blood progenitors.eLife · 2014Article
- A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.Molecular genetics & genomic medicine · 2014Article
- DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients.Tremor and other hyperkinetic movements (New York, N.Y.) · 2014Article
- Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.Neurogenetics · 2013Article
- Understanding the anatomy of dystonia: determinants of penetrance and phenotype.Current neurology and neuroscience reports · 2013Review
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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. After characterization of the TOR1A promoter, we demonstrate that THAP1 binds to the core promoter of TOR1A. Further, we report that wild type THAP1 represses the expression of TOR1A, whereas dystonia 6-associated mutant THAP1 results in decreased repression of TOR1A. Our data demonstrate that THAP1 regulates the transcription of TOR1A, suggesting transcriptional dysregulation as a cause of dystonia.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.