Associated Papers
The DYT6 dystonia causative protein THAP1 is responsible for proteasome activity via PSMB5 transcriptional regulation.
Wang Y et al.
Nature Communications, 2025
Peripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/- mice.
Reinhold C et al.
Neurobiology of Disease, 2025
Synaptic Dysfunction in Dystonia: Update From Experimental Models.
El Atiallah I et al.
Current Neuropharmacology, 2023
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
Cheng F et al.
Brain : a Journal of Neurology, 2022
Electrophysiological characterization of the striatal cholinergic interneurons in Dyt1 ΔGAG knock-in mice.
Xing H et al.
Dystonia (lausanne, Switzerland), 2022
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.
Yellajoshyula D et al.
Human Molecular Genetics, 2022
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Domingo A et al.
American Journal of Human Genetics, 2021
The dystonia gene THAP1 controls DNA double-strand break repair choice.
Shinoda K et al.
Molecular Cell, 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
Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
Zakirova Z et al.
Plos Genetics, 2018
THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.
Aguilo F et al.
Stem Cell Reports, 2017
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.
Yellajoshyula D et al.
Developmental Cell, 2017
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.
Ruiz M et al.
Human Molecular Genetics, 2015
Review: genetics and neuropathology of primary pure dystonia.
Paudel R et al.
Neuropathology and Applied Neurobiology, 2012
Subcellular distribution of THAP1 and alterations in the microstructure of brain white matter in DYT6 dystonia.
Cheng FB et al.
Parkinsonism & Related Disorders, 2012
Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
LeDoux MS et al.
Parkinsonism & Related Disorders, 2012
THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
Cheng FB et al.
Journal of Neurology, 2012
Pallidal deep brain stimulation for DYT6 dystonia.
Panov F et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
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