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
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.
Baumann H et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Reduced Expression of GABA A Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons.
Staege S et al.
Frontiers in Cell and Developmental Biology, 2021
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.
Baumann H et al.
Stem Cell Research, 2018
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Erogullari A et al.
Biochimica Et Biophysica Acta, 2014
Review: genetics and neuropathology of primary pure dystonia.
Paudel R et al.
Neuropathology and Applied Neurobiology, 2012
THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.
Xiromerisiou G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
LeDoux MS et al.
Parkinsonism & Related Disorders, 2012
Identification and functional analysis of novel THAP1 mutations.
Lohmann K et al.
European Journal of Human Genetics : Ejhg, 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
Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.
Zittel S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
A molecular link between dystonia 1 and dystonia 6?
Müller U
Annals of Neurology, 2010
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Kaiser FJ et al.
Annals of Neurology, 2010