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The protein encoded by THAP1 contains a THAP domain, a conserved DNA-binding domain. Additionally we are shipping THAP1 Antibodies (42) and many more products for this protein.
Showing 10 out of 11 products:
We functionally characterized for the first time three dystonia-causing missense variants (p.N136K, p.N136S and p.Y137C) within the HBM in the C-terminal region of THAP1. Dystonia-causing mutations affecting the residues N136 and Y137 in THAP1 significantly reduced HCFC1 (show HCFC1 Proteins) recruitment to all four tested promoter regions.
that the THAP1 is likely to have a causative role in the pathogenesis of Indian primary pure dystonia patients
This study demonstrated that whole-exome sequencing show reveled THAP1 mutation with early-onset generalized dystonia.
Genetic screening targeted at currently known disease-causing mutations in TOR1A (show TOR1A Proteins), THAP1, and TUBB4 (show TUBB3 Proteins) appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1.
A deleterious THAP1 mutation was identified in patients with idiopathic isolated dystonia.
there might not be an association between TOR1A (show TOR1A Proteins) or THAP1 and patients with adult-onset primary focal dystonia
findings strongly suggest the role of other genetic factors or environmental triggers in the pathogenesis of dystonia related to mutations in THAP1 gene.
The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia. It shows known and novel substitutions.
THAP1 variants are an important cause of dystonia among individuals with an early-onset disease and a positive family history.
This study demonistrated that Combined occurrence of a novel TOR1A (show TOR1A Proteins) and a THAP1 mutation in primary dystonia.
These studies establish a role for THAP1 transcriptional regulation at the inception of myelination and implicate abnormal timing of myelination in the pathogenesis of childhood-onset dystonia.
The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed.
THAP domain-containing protein 1
, THAP domain containing, apoptosis associated protein 1
, THAP domain-containing protein 1 A
, THAP domain protein 1
, nuclear proapoptotic factor
, THAP domain-containing apoptosis-associated protein 1