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THAP domain containing, apoptosis associated protein 1

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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: DQ2, AGE, HAD, CAN, RDP
Papers on DYT6
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.
Ehrlich et al., Iowa City, United States. In Hum Mol Genet, Jan 2016
DYT6 dystonia is caused by mutations in THAP1 [Thanatos-associated (THAP) domain-containing apoptosis-associated protein] and is autosomal dominant and partially penetrant.
DYT6 Dystonia: A Neuropathological Study.
Holton et al., London, United Kingdom. In Neurodegener Dis, Dec 2015
BACKGROUND: Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6).
Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation.
Kühn et al., Berlin, Germany. In J Neurol, Nov 2015
Here, we report the course of clinical improvement for up to 11 years of pallidal DBS in three male patients belonging to the same family with early-onset generalized or segmental dystonia due to a heterozygous THAP1 gene mutation (DYT6).
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Winkelmann et al., München, Germany. In Am J Hum Genet, Jul 2015
Although autosomal-dominant mutations in TOR1A, THAP1, and GNAL have been found in some cases, the molecular mechanisms underlying isolated dystonia are largely unknown.
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia.
Klein et al., Kiel, Germany. In Neurology, Apr 2015
METHODS: In this retrospective multicenter study, GPi-DBS outcome of 8 patients with DYT6, 9 with DYT1, and 38 with isolated dystonia without known monogenic cause (non-DYT) was assessed at early (1-16 months) and late (22-92 months) follow-up using Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) scores.
Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.
Bogucki et al., Łódź, Poland. In Plos One, 2014
The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia and to characterize their phenotype.
Inherited isolated dystonia: clinical genetics and gene function.
Dauer, Ann Arbor, United States. In Neurotherapeutics, 2014
Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL).
Genetics in dystonia.
Klein, Lübeck, Germany. In Parkinsonism Relat Disord, 2014
Confirmed genes for isolated dystonias include TOR1A/DYT1; THAP1/DYT6; GNAL/DYT25.
Dystonia--new advances in classification, genetics, pathophysiology and treatment.
Skogseid, Oslo, Norway. In Acta Neurol Scand Suppl, 2013
The discovery of the first two gene mutations causing primary generalized dystonia (DYT1-TOR1A and DYT6-THAP1) has facilitated studies on pathogenesis and pathophysiology of primary dystonias, by comparing neurophysiology between manifesting and non-manifesting carriers, and by studying the molecular biology of the mutant gene products.
Klein et al., In Continuum (minneap Minn), 2013
Isolated dystonia (with dystonic tremor) can be caused by mutations in TOR1A (DYT1), TUBB4 (DYT4), THAP1 (DYT6), PRKRA (DYT16), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DYT25).
Genetics of dystonia: what's known? What's new? What's next?
Klein et al., Lübeck, Germany. In Mov Disord, 2013
Isolated dystonia can be caused by mutations in TOR1A (DYT1), TUBB4 (DYT4), THAP1 (DYT6), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DYT25).
Mutations in GNAL cause primary torsion dystonia.
Ozelius et al., New York City, United States. In Nat Genet, 2013
Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and CIZ1 (ref.
Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
Zhao et al., Memphis, United States. In Parkinsonism Relat Disord, 2012
THAP domain of THAP1 tend to manifest at an earlier age and exhibit more extensive anatomical distributions than mutations localized to other regions of THAP1.
Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.
Grundmann et al., In Mov Disord, 2012
The role of THAP1 as a major genetic modifier in DYT1 dystonia and suggest the presence of other genetic or environmental factors that may influence the manifestation of DYT1 dystonia.
THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
Wang et al., Beijing, China. In J Neurol, 2012
One silent mutation (c.267G>A) was shown to affect THAP1 expression.
Identification and functional analysis of novel THAP1 mutations.
Brüggemann et al., Lübeck, Germany. In Eur J Hum Genet, 2012
THAP1 mutations are rare in unselected dystonia patients and functional analysis is necessary to distinguish between benign variants and pathogenic mutations.
Novel THAP1 gene mutations in patients with primary dystonia from southwest China.
Shang et al., Chengdu, China. In J Neurol Sci, 2011
Mutation frequency of the THAP1 gene is 0.87% in Chinese patients with primary pure dystonia, similar to the mutation frequency found in other ethnic groups.
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
Saunders-Pullman et al., New York City, United States. In Lancet Neurol, 2009
Mutations in THAP1 underlie a substantial proportion of early-onset primary dystonia in non-DYT1 families.
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Klein et al., Lübeck, Germany. In Lancet Neurol, 2009
Although mutations in THAP1 might have only a minor role in patients with different, but mainly focal, forms of dystonia, they do seem to be associated with early-onset generalised dystonia with spasmodic dysphonia.
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
Ozelius et al., New York City, United States. In Nat Genet, 2009
Discovery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion dystonia (also known as DYT6 dystonia).
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