Associated Papers
Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression.
Ramage DE et al.
Nature Communications, 2025
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.
Diaw SH et al.
Neurogenetics, 2024
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Domingo A et al.
American Journal of Human Genetics, 2021
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Isolated dystonia: clinical and genetic updates.
Domingo A et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.
Cheng F et al.
Journal of Molecular Neuroscience : Mn, 2020
Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia.
Dobričić VS et al.
Journal of Neurology, 2013
Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1.
Campagne S et al.
Nucleic Acids Research, 2012
Review: genetics and neuropathology of primary pure dystonia.
Paudel R et al.
Neuropathology and Applied Neurobiology, 2012
Mutational screening of THAP1 in a German population with primary dystonia.
Kaffe M et al.
Parkinsonism & Related Disorders, 2012
Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers.
Deik AF et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2012
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
Blanchard A et al.
Human Mutation, 2011
Novel THAP1 gene mutations in patients with primary dystonia from southwest China.
Song W et al.
Journal of the Neurological Sciences, 2011
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
Cheng FB et al.
European Journal of Neurology, 2011
Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.
Gavarini S et al.
Annals of Neurology, 2010
A molecular link between dystonia 1 and dystonia 6?
Müller U
Annals of Neurology, 2010
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.
Paisán-Ruiz C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009