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
Transcriptional regulatory network for neuron-glia interactions and its implication for DYT6 dystonia.
Yellajoshyula D
Dystonia (lausanne, Switzerland), 2023
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.
Yellajoshyula D et al.
Human Molecular Genetics, 2022
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
THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation.
Dehaene H et al.
Plos One, 2020
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.
Yellajoshyula D et al.
Developmental Cell, 2017
Inherited isolated dystonia: clinical genetics and gene function.
Dauer W
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2014
Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1.
Campagne S et al.
Nucleic Acids Research, 2012
THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.
Xiromerisiou G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
Mutational screening of THAP1 in a German population with primary dystonia.
Kaffe M et al.
Parkinsonism & Related Disorders, 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
Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.
Sengel C et al.
Journal of Neurochemistry, 2011
Parkinsonism and dystonia associated with adalimumab.
Ha AD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias.
Mazars R et al.
The Journal of Biological Chemistry, 2010
[Monogenetic dystonia: revisiting the dopaminergic hypothesis].
Blanchard A et al.
Revue Neurologique, 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
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Djarmati A et al.
The Lancet. Neurology, 2009
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
Fuchs T et al.
Nature Genetics, 2009