The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response (Q34083670)

30 July 2017

title

The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response. (English)

1 reference

30 July 2017

main subject

endoplasmic reticulum

0 references

author

Xandra O. Breakefield

object named as

Xandra O Breakefield

1 reference

30 July 2017

Guy A Caldwell

1 reference

30 July 2017

Pan Chen

1 reference

30 July 2017

Alexander J Burdette

1 reference

30 July 2017

J Christopher Porter

1 reference

30 July 2017

John C Ricketts

1 reference

30 July 2017

Stacey A Fox

1 reference

30 July 2017

Flavia C Nery

1 reference

30 July 2017

Jeffrey W Hewett

1 reference

30 July 2017

Laura A Berkowitz

1 reference

30 July 2017

Kim A Caldwell

1 reference

30 July 2017

publication date

28 June 2010

1 reference

30 July 2017

published in

Human Molecular Genetics

1 reference

30 July 2017

1 reference

30 July 2017

1 reference

30 July 2017

page(s)

3502-3515

1 reference

Chemical enhancement of torsinA function in cell and animal models of torsion dystonia

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia 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=2928126

Protein homeostasis and aging: taking care of proteins from the cradle to the grave

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Consequences of the DYT1 mutation on torsinA oligomerization and degradation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Activation of the unfolded protein response is required for defenses against bacterial pore-forming toxin in vivo.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Reduced translocation of nascent prion protein during ER stress contributes to neurodegeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the 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=2928126

Proteotoxic stress and inducible chaperone networks in neurodegenerative disease and aging

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

The pathophysiological basis of dystonias.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Adapting proteostasis for disease intervention

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia 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=2928126

Hypothesis-based RNAi screening identifies neuroprotective genes in a Parkinson's disease model

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Endoplasmic reticulum stress in disease pathogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

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=2928126

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=2928126

Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia 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=2928126

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Substrate-specific translocational attenuation during ER stress defines a pre-emptive quality control pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Protein aggregation in crowded environments.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Developmental patterns of torsinA and torsinB expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset 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=2928126

Genetic interactions due to constitutive and inducible gene regulation mediated by the unfolded protein response in C. elegans.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

AAA+ proteins: have engine, will work

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Misfolded proteins, endoplasmic reticulum stress and neurodegeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

TorsinA in the 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=2928126

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=2928126

Principles of protein folding, misfolding and aggregation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

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=2928126

Characterization of human torsinA and its dystonia-associated mutant form

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

IRE1 couples endoplasmic reticulum load to secretory capacity by processing the XBP-1 mRNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Complementary signaling pathways regulate the unfolded protein response and are required for C. elegans development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

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=2928126

Functional and genomic analyses reveal an essential coordination between the unfolded protein response and ER-associated degradation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

The TOR1A (DYT1) gene family and its role in early onset 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=2928126

Immunohistochemical localization and distribution of torsinA in normal human and rat brain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Expression of the early-onset torsion dystonia gene (DYT1) in human brain.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

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=2928126

The genetics of Caenorhabditis elegans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Efficient gene transfer in C.elegans: extrachromosomal maintenance and integration of transforming sequences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

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

5 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ266

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ266

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ266

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ266

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ266

TorsinA, the gene linked to early-onset dystonia, is upregulated by the dopaminergic toxin MPTP in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ266

Down-regulation of torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ266

Developmental expression of rat torsinA transcript and protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ266

A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ266

Genetic interactions among cortical malformation genes that influence susceptibility to convulsions in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ266

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=2928126

Development and anatomic localization of torsinA

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

The function of GADD34 is a recovery from a shutoff of protein synthesis induced by ER stress: elucidation by GADD34-deficient mice

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928126

Spatial control of gut-specific gene expression during Caenorhabditis elegans development

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20584926

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDQ266

1 reference

30 July 2017

1 reference

30 July 2017

1 reference