Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. (Q34572533)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20865765%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia (English)

1 reference

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14 February 2020

1 reference

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14 February 2020

Laurie J Ozelius

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14 February 2020

Sophie Gavarini

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14 February 2020

Tania Fuchs

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14 February 2020

Natalia Lyons

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14 February 2020

Michelle E Ehrlich

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14 February 2020

Jean-Philippe Girard

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14 February 2020

publication date

1 October 2010

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14 February 2020

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14 February 2020

volume

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14 February 2020

issue

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14 February 2020

page(s)

549-553

1 reference

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

14 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

Genome-wide analysis of binding sites and direct target genes of the orphan nuclear receptor NR2F1/COUP-TFI

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

Novel THAP1 sequence variants in primary dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

E2f1-3 switch from activators in progenitor cells to repressors in differentiating cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

Convergent evidence for abnormal striatal synaptic plasticity in dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

Abnormal structure-function relationships in hereditary dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

Commentary: Dopaminergic dysfunction in DYT1 dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

Regulation of DYT1 gene expression by the Ets family of transcription factors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

Network analysis of FDA approved drugs and their targets

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

Developmental patterns of torsinA and torsinB expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

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

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.22138

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.22138

Factors predicting improvement in primary generalized dystonia treated by pallidal deep brain stimulation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.22138

Mutation screening of the DYT6/THAP1 gene in Italy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038652

27 October 2018

Identifiers

DOI

10.1002/ANA.22138

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20865765%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20865765%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

PubMed publication ID

20865765

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20865765%20AND%20SRC:MED&resulttype=core&format=json