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A founder mutation in the Thanatos‐associated (THAP) domain containing, apoptosis associated protein 1 (THAP1) gene causing… Expand An extensive variety of THAP1 sequence variants have been associated with focal, segmental and generalized dystonia with age of… Expand THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene… Expand Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the… Expand THAP1 is a sequence-specific DNA binding factor that regulates cell proliferation through modulation of target genes such as the… Expand Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e… Expand BACKGROUND
Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in… Expand BACKGROUND
DYT6 is a primary, early-onset torsion dystonia; however, unlike in DYT1 dystonia, the symptoms of DYT6 dystonia… Expand We recently cloned a novel human nuclear factor (designated THAP1) from postcapillary venule endothelial cells (ECs) that… Expand Promyelocytic leukemia (PML) nuclear bodies (PML NBs) are discrete subnuclear domains organized by the promyelocytic leukemia… Expand