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The protein encoded by THAP1 contains a THAP domain, a conserved DNA-binding domain. Additionally we are shipping THAP1 Antibodies (36) and THAP1 Proteins (11) and many more products for this protein.
A deleterious THAP1 mutation was identified in patients with idiopathic isolated dystonia.
there might not be an association between TOR1A (show TOR1A ELISA Kits) 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 ELISA Kits) and a THAP1 mutation in primary dystonia.
this study identified a feedback-loop in the regulation of THAP1 expression and demonstrated that mutant THAP1 leads to higher THAP1 expression levels.
Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A (show TOR1A ELISA Kits) GAG deletion.
This study suggest that the clinical disease course in dystonia patients with mutation of THAP1 in Japanese'
Our results indicate that certain mutations in the THAP1 gene may lead to primary dystonia with remarkable intrafamilial clinical variability.
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