ArticleAnnals of neurology2010
Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.
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 37 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
37 citing papers in PubMed, 97 citations in OpenAlex.
- Dystonia: Insights into Mechanisms and Novel Therapeutics.Current neurology and neuroscience reports · 2026Review
- Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.Life (Basel, Switzerland) · 2025Review
- 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
- Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.Journal of molecular neuroscience : MN · 2020Article
- Article
- 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
- Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.PLoS genetics · 2018Article
- Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Review
- 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
- DYT6 Dystonia: A Neuropathological Study.Neuro-degenerative diseases · 2016Article
- 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
- A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.Molecular genetics & genomic medicine · 2014Article
- Understanding the anatomy of dystonia: determinants of penetrance and phenotype.Current neurology and neuroscience reports · 2013Review
- Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.Neurogenetics · 2013Article
- The genetics of dystonia: new twists in an old tale.Brain : a journal of neurology · 2013Review
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Primary dystonia is a movement disorder characterized by sustained muscle contractions and in which dystonia is the only or predominant clinical feature. TOR1A(DYT1) and the transcription factor THAP1(DYT6) are the only genes identified thus far for primary dystonia. Using electromobility shift assays and chromatin immunoprecipitation (ChIP) quantitative polymerase chain reaction (qPCR), we demonstrate a physical interaction between THAP1 and the TOR1A promoter that is abolished by pathophysiologic mutations. Our findings provide the first evidence that causative genes for primary dystonia intersect in a common pathway and raise the possibility of developing novel therapies targeting this pathway.
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Registered trials
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.