ArticleHuman molecular genetics2019
Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 39 citations in OpenAlex.
- Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia.Annals of clinical and translational neurology · 2026Article
- EGFR-19del nuclear translocation increases HDAC7 expression inhibiting the Hippo pathway and exacerbating TKI resistance in lung adenocarcinoma.Theranostics · 2026Article
- Deletion of the THAP1 Gene Is Responsible for Typical DYT-THAP1.Movement disorders clinical practice · 2025Article
- Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes.Annals of neurology · 2025Article
- DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.Neurogenetics · 2024Article
- Synaptic Dysfunction in Dystonia: Update From Experimental Models.Current neuropharmacology · 2023Review
- Transcriptional regulatory network for neuron-glia interactions and its implication for DYT6 dystonia.Dystonia (Lausanne, Switzerland) · 2023Article
- Genetic analysis of dystonia-related genes in Parkinson's disease.Frontiers in aging neuroscience · 2023Article
- DYT-Frontiers in neuroscience · 2023Review
- 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
- A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.Human molecular genetics · 2022Article
- Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice.Annals of clinical and translational neurology · 2021Article
- Differential expression of striatal proteins in a mouse model of DOPA-responsive dystonia reveals shared mechanisms among dystonic disorders.Molecular genetics and metabolism · 2021Article
- The dystonia gene THAP1 controls DNA double-strand break repair choice.Molecular cell · 2021Article
- Investigating the role of striatal dopamine receptor 2 in motor coordination and balance: Insights into the pathogenesis of DYT1 dystonia.Behavioural brain research · 2021Article
- Emerging and converging molecular mechanisms in dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Contemporary functional neuroanatomy and pathophysiology of dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.The Journal of physiology · 2021Article
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Reduced Expression of GABAFrontiers in cell and developmental biology · 2021Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Dystonia is a movement disorder characterized by involuntary and repetitive co-contractions of agonist and antagonist muscles. Dystonia 6 (DYT6) is an autosomal dominant dystonia caused by loss-of-function mutations in the zinc finger transcription factor THAP1. We have generated Thap1 knock-out mice with a view to understanding its transcriptional role. While germ-line deletion of Thap1 is embryonic lethal, mice lacking one Thap1 allele-which in principle should recapitulate the haploinsufficiency of the human syndrome-do not show a discernable phenotype. This is because mice show autoregulation of Thap1 mRNA levels with upregulation at the non-affected locus. We then deleted Thap1 in glial and neuronal precursors using a nestin-conditional approach. Although these mice do not exhibit dystonia, they show pronounced locomotor deficits reflecting derangements in the cerebellar and basal ganglia circuitry. These behavioral features are associated with alterations in the expression of genes involved in nervous system development, synaptic transmission, cytoskeleton, gliosis and dopamine signaling that link DYT6 to other primary and secondary dystonic syndromes.
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