The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). (Q31814850)

4 July 2017

title

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). (English)

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4 July 2017

main subject

THAP domain containing 1

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DNA-binding transcription repressor activity, RNA polymerase II-specific

GOA release 2020-03-11

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Gabriele Gillessen-Kaesbach

GOA release 2020-03-11

author

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Christine Klein

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4 July 2017

Katja Lohmann

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4 July 2017

Frank J Kaiser

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4 July 2017

Alma Osmanoric

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4 July 2017

Aleksandar Rakovic

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Alev Erogullari

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4 July 2017

Nils Uflacker

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Diana Braunholz

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Thora Lohnau

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4 July 2017

Slobodanka Orolicki

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4 July 2017

Melanie Albrecht

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4 July 2017

publication date

1 October 2010

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4 July 2017

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4 July 2017

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4 July 2017

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4 July 2017

page(s)

554-559

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Genetics of primary torsion dystonia

4 July 2017

cites work

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The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

21 January 2018

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Primary dystonia: molecules and mechanisms.

21 January 2018

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Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

21 January 2018

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Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

21 January 2018

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

21 January 2018

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THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

21 January 2018

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Novel THAP1 sequence variants in primary dystonia

21 January 2018

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The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes

21 January 2018

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THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies

21 January 2018

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Structural determinants of specific DNA-recognition by the THAP zinc finger

21 January 2018

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The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias

21 January 2018

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The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications

21 January 2018

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The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity

21 January 2018

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THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves

21 January 2018

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Influence of proline residues on protein conformation

21 January 2018

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TorsinA and dystonia: from nuclear envelope to synapse.

21 January 2018

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Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant

21 January 2018

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Recombinant expression, purification, and comparative characterization of torsinA and its torsion dystonia-associated variant Delta E-torsinA.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.22157

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4 July 2017

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