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
Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo.
Cheng F et al.
Science Advances, 2022
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
Cheng F et al.
Brain : a Journal of Neurology, 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
Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population.
Wang L et al.
Clinical Neurology and Neurosurgery, 2016
DYT6 Dystonia: A Neuropathological Study.
Paudel R et al.
Neuro-degenerative Diseases, 2016
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Erogullari A et al.
Biochimica Et Biophysica Acta, 2014
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
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
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
Novel THAP1 gene mutations in patients with primary dystonia from southwest China.
Song W et al.
Journal of the Neurological Sciences, 2011
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
Schneider SA 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
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