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
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
New THAP1 mutation and role of putative modifier in TOR1A.
Piovesana LG et al.
Acta Neurologica Scandinavica, 2017
DYT6 Dystonia: A Neuropathological Study.
Paudel R et al.
Neuro-degenerative Diseases, 2016
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.
da Silva-Junior FP et al.
Journal of the Neurological Sciences, 2014
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