Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia (Q33938827)

30 July 2017

Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia (English)

1 reference

30 July 2017

10

Stephan Züchner

1 reference

30 July 2017

Nicole Calakos

1

1 reference

30 July 2017

Viren D Patel

2

1 reference

30 July 2017

Melissa Gottron

3

1 reference

30 July 2017

Gaofeng Wang

4

1 reference

30 July 2017

Khan-Nhat Tran-Viet

5

1 reference

30 July 2017

Danielle Brewington

6

1 reference

30 July 2017

John L Beyer

7

1 reference

30 July 2017

David C Steffens

8

1 reference

30 July 2017

Ranga R Krishnan

9

1 reference

30 July 2017

language of work or name

English

0 references

publication date

2 December 2009

1 reference

Journal of Medical Genetics

30 July 2017

1 reference

30 July 2017

47

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30 July 2017

9

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30 July 2017

646-650

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Genetics and treatment of dystonia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

The torsin-family AAA+ protein OOC-5 contains a critical disulfide adjacent to Sensor-II that couples redox state to nucleotide binding

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Do primary adult-onset focal dystonias share aetiological factors?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Behavioral and psychiatric manifestations in dystonia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Writer's cramp in an Australian pedigree with DYT1 dystonia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Mutations in DYT1: extension of the phenotypic and mutational spectrum

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Candidate gene studies in focal dystonia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Torsin A haplotype predisposes to idiopathic dystonia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891583

Lack of association with TorsinA haplotype in German patients with sporadic dystonia

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19955557

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2009.072082

1 reference

30 July 2017

1 reference

30 July 2017

1 reference