ArticleHuman molecular genetics2015
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 55 citations in OpenAlex.
- [Effects ofZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026Article
- THAP1 is a maternal effect factor required for the first cell cycle via Rrm1 in early mouse embryos.EMBO reports · 2026Article
- The DYT6 dystonia causative protein THAP1 is responsible for proteasome activity via PSMB5 transcriptional regulation.Nature communications · 2025Article
- Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression.Nature communications · 2025Article
- Cerebellar contributions to dystonia: unraveling the role of Purkinje cells and cerebellar nuclei.Dystonia (Lausanne, Switzerland) · 2025Article
- DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.Neurogenetics · 2024Article
- Integrated lipidomic and transcriptomic analysis reveals clarithromycin-induced alteration of glycerophospholipid metabolism in the cerebral cortex of mice.Cell biology and toxicology · 2023Article
- Synaptic Dysfunction in Dystonia: Update From Experimental Models.Current neuropharmacology · 2023Review
- Mammalian genome innovation through transposon domestication.Nature cell biology · 2022Review
- 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
- Quantification of Behavioral Deficits in Developing Mice With Dystonic Behaviors.Dystonia (Lausanne, Switzerland) · 2022Article
- Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice.Annals of clinical and translational neurology · 2021Article
- Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.American journal of human genetics · 2021Article
- The dystonia gene THAP1 controls DNA double-strand break repair choice.Molecular cell · 2021Article
- Ronin overexpression induces cerebellar degeneration in a mouse model of ataxia.Disease models & mechanisms · 2021Article
- Contemporary functional neuroanatomy and pathophysiology of dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Emerging and converging molecular mechanisms in 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
- Reduced Expression of GABAFrontiers in cell and developmental biology · 2021Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
DYT6 dystonia is caused by mutations in THAP1 [Thanatos-associated (THAP) domain-containing apoptosis-associated protein] and is autosomal dominant and partially penetrant. Like other genetic primary dystonias, DYT6 patients have no characteristic neuropathology, and mechanisms by which mutations in THAP1 cause dystonia are unknown. Thap1 is a zinc-finger transcription factor, and most pathogenic THAP1 mutations are missense and are located in the DNA-binding domain. There are also nonsense mutations, which act as the equivalent of a null allele because they result in the generation of small mRNA species that are likely rapidly degraded via nonsense-mediated decay. The function of Thap1 in neurons is unknown, but there is a unique, neuronal 50-kDa Thap1 species, and Thap1 levels are auto-regulated on the mRNA level. Herein, we present the first characterization of two mouse models of DYT6, including a pathogenic knockin mutation, C54Y and a null mutation. Alterations in motor behaviors, transcription and brain structure are demonstrated. The projection neurons of the deep cerebellar nuclei are especially altered. Abnormalities vary according to genotype, sex, age and/or brain region, but importantly, overlap with those of other dystonia mouse models. These data highlight the similarities and differences in age- and cell-specific effects of a Thap1 mutation, indicating that the pathophysiology of THAP1 mutations should be assayed at multiple ages and neuronal types and support the notion of final common pathways in the pathophysiology of dystonia arising from disparate mutations.
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