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Article

Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.

Journal of neurochemistry - 1 Sept 2011

Sengel Cem, Gavarini Sophie, Sharma Nutan, Ozelius Laurie J, Bragg D Cristopher

Abstract excerpt

Thanatos-associated [THAP] domain-containing apoptosis-associated protein 1 (THAP1) is a DNA-binding protein that has been recently associated with DYT6 dystonia, a hereditary movement disorder involving sustained, involuntary muscle contractions. A large number of dystonia-related mutations have been identified in THAP1 in diverse patient populations worldwide. Previous reports have suggested that THAP1...

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Source

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Identifiers

PMID: 21752024
DOI: 10.1111/j.1471-4159.2011.07386.x
PMCID: PMC3166381

Genes

THAP1

Variants

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.PMID 21752024Read ↗

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.Semantic proximity Read ↗

Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.Semantic proximity Read ↗

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.Semantic proximity Read ↗

Identification and functional analysis of novel THAP1 mutations.Semantic proximity Read ↗

Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1Semantic proximity Read ↗

An African-American family with dystonia.Semantic proximity Read ↗

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.Semantic proximity Read ↗

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.Semantic proximity Read ↗

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.Semantic proximity Read ↗

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)Semantic proximity Read ↗

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.Semantic proximity Read ↗

Novel THAP1 sequence variants in primary dystonia.Semantic proximity Read ↗

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