Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
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THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor groovesThe THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystoniasNMR studies of a new family of DNA binding proteins: the THAP proteinsMutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesisMutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystoniaCerebellothalamocortical connectivity regulates penetrance in dystoniaClinical and genetic features of cervical dystonia in a large multicenter cohortHomozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystoniaStructure of the C-terminal heme-binding domain of THAP domain containing protein 4 from Homo sapiensRole of Gα(olf) in familial and sporadic adult-onset primary dystoniaSubstantia nigra hyperechogenicity in DYT6 dystonia: a pilot studyIncreased c-fos expression in the central nucleus of the amygdala and enhancement of cued fear memory in Dyt1 DeltaGAG knock-in miceAn African-American family with dystoniaVariant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.Adult-onset leg dystonia due to a missense mutation in THAP1.The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystoniaThe dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).Genetics of dystonia: what's known? What's new? What's next?PedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County.Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.Novel THAP1 sequence variants in primary dystonia.THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.Convergent evidence for abnormal striatal synaptic plasticity in dystonia.The phenotypic spectrum of DYT24 due to ANO3 mutations.Impaired sequence learning in dystonia mutation carriers: a genotypic effect.Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractionsPvr expression regulators in equilibrium signal control and maintenance of Drosophila blood progenitorsCharacterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism.SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystoniaDystonia--new advances in classification, genetics, pathophysiology and treatment.Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging.Genetic and clinical features of primary torsion dystonia.Pre-synaptic release deficits in a DYT1 dystonia mouse model.The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.Mutations in HPCA cause autosomal-recessive primary isolated dystoniaInherited isolated dystonia: clinical genetics and gene function.A complex task? Direct modulation of transcription factors with small molecules.Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.
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P2860
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
description
2009 nî lūn-bûn
@nan
2009 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մարտին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@ast
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@en
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@en-gb
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@nl
type
label
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@ast
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@en
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@en-gb
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@nl
prefLabel
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@ast
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@en
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@en-gb
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
@en
P2093
Deborah Raymond
Laurie J Ozelius
Michelle E Ehrlich
Sophie Gavarini
Susan B Bressman
Tania Fuchs
P2860
P2888
P3181
P356
10.1038/NG.304
P407
P577
2009-03-01T00:00:00Z
P6179
1019033687