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
39929834 (PubMed )
Supplement: 41467_2025_56782_MOESM4_ESM.xlsx › THAP1_Deep_Mutational_Scan
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
Review: genetics and neuropathology of primary pure dystonia.
Paudel R et al.
Neuropathology and Applied Neurobiology, 2012
Identification and functional analysis of novel THAP1 mutations.
Lohmann K et al.
European Journal of Human Genetics : Ejhg, 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
Parkinsonism and dystonia associated with adalimumab.
Ha AD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
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
Select a paper to view details