(Q34578567)

3 August 2017

title

Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells (English)

1 reference

3 August 2017

1 reference

Xandra O. Breakefield

7

object named as

Xandra O Breakefield

1 reference

3 August 2017

Jeffrey W Hewett

1

1 reference

3 August 2017

Bakhos Tannous

2

1 reference

3 August 2017

Brian P Niland

3

1 reference

3 August 2017

Flavia C Nery

4

1 reference

3 August 2017

Juan Zeng

5

1 reference

3 August 2017

Yuqing Li

6

1 reference

3 August 2017

language of work or name

English

0 references

publication date

11 April 2007

1 reference

Proceedings of the National Academy of Sciences of the United States of America

3 August 2017

published in

1 reference

3 August 2017

volume

104

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3 August 2017

issue

17

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3 August 2017

page(s)

7271-7276

1 reference

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

3 August 2017

cites work

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Biosynthesis of the dystonia-associated AAA ATPase torsinA at the endoplasmic reticulum

7 July 2018

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Endoplasmic reticulum stress signaling in disease

7 July 2018

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Kinectin-dependent assembly of translation elongation factor-1 complex on endoplasmic reticulum regulates protein synthesis

7 July 2018

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Microtubule motors at the intersection of trafficking and transport

7 July 2018

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Secreted protein-based reporter systems for monitoring inflammatory events: critical interference by endoplasmic reticulum stress

7 July 2018

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Compartmentalisation and localisation of the translation initiation factor (eIF) 4F complex in normally growing fibroblasts

7 July 2018

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Endoplasmic reticulum stress in health and disease

7 July 2018

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The secretory capacity of a cell depends on the efficiency of endoplasmic reticulum-associated degradation.

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Task-specific hand dystonia: can too much plasticity be bad for you?

7 July 2018

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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=1855419

The unfolded protein response: a stress signaling pathway critical for health and disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

RNAi blocks DYT1 mutant torsinA inclusions in neurons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset 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=1855419

AAA proteins: have engine, will work

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

TorsinA expression is detectable in human infants as young as 4 weeks old.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

The AAA protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y 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=1855419

Optimized large-scale production of high titer lentivirus vector pseudotypes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

The efficiency of protein compartmentalization into the secretory pathway

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

XBP1: a link between the unfolded protein response, lipid biosynthesis, and biogenesis of the endoplasmic reticulum.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Intermediate filaments mediate cytoskeletal crosstalk

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Deep brain stimulation in the treatment of dyskinesia and 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=1855419

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

TorsinA negatively controls neurite outgrowth of SH-SY5Y human neuronal cell line

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

TorsinA in the nuclear envelope

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

An improved cyan fluorescent protein variant useful for FRET

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Characterization of human torsinA and its dystonia-associated mutant form

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Quality control in the endoplasmic reticulum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Structural organization of the endoplasmic reticulum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Retro-translocation of proteins from the endoplasmic reticulum into the cytosol

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

TorsinA: movement at many levels

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

AAA superfamily ATPases: common structure--diverse function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Dynamic interaction of BiP and ER stress transducers in the unfolded-protein response

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural 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=1855419

alphaB-crystallin interacts with cytoplasmic intermediate filament bundles during mitosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Pathogenic light chains and the B-cell repertoire

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

AAA : A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Crystal structure of the Aequorea victoria green fluorescent protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

N-ethylmaleimide-sensitive fusion protein: a trimeric ATPase whose hydrolysis of ATP is required for membrane fusion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Primary dystonias: a review of the pathology and suggestions for new directions of 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=1855419

Concept and classification of 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=1855419

Functional organization of the nuclear envelope

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion

7 July 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

Brainstem pathology in DYT1 primary torsion dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

Deep brain stimulation for dystonia: make the lame walk

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

The basic science of glomus jugulare tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

Mutations in DYT1: extension of the phenotypic and mutational spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

Circadian rhythms in the retina of rats with photoreceptor degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

Torsin-mediated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

Codon-optimized Gaussia luciferase cDNA for mammalian gene expression in culture and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

Molecular defects of the dystonia-causing torsinA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

Developmental expression of rat torsinA transcript and protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

Targeted transgene integration into transgenic mouse fibroblasts carrying the full-length human AAVS1 locus mediated by HSV/AAV rep( ) hybrid amplicon vector.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0701185104

Overexpression of torsinA in PC12 cells protects against toxicity.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1855419

Cathechol‐O‐methyltransferase activity in cultured human skin fibroblasts from controls and patients with dystonia musculorum deformans

27 October 2018

1 reference

12 December 2020

Co-localization of components of the protein-synthesizing machinery with the cytoskeleton in G0-arrested cells

1 reference

12 December 2020

The presence or absence of a vimentin-type intermediate filament network affects the shape of the nucleus in human SW-13 cells

1 reference

12 December 2020

TorsinA protects against oxidative stress in COS-1 and PC12 cells

1 reference

12 December 2020

Here come the SUNs: a nucleocytoskeletal missing link

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0701185104

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference