Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce. (Q30497374)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Fumiaki Yokoi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Guang Yang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Jindong Li

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Tong Zhou

1 reference

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7 February 2020

Yuqing Li

1 reference

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7 February 2020

publication date

13 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Biochemistry

7 February 2020

published in

1 reference

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7 February 2020

volume

148

1 reference

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7 February 2020

issue

1 reference

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7 February 2020

page(s)

459-466

1 reference

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

7 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=2981491

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

20 June 2018

1 reference

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Increased c-fos expression in the central nucleus of the amygdala and enhancement of cued fear memory in Dyt1 DeltaGAG knock-in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Abnormal structure-function relationships in hereditary dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Consequences of the DYT1 mutation on torsinA oligomerization and degradation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Motor deficits and hyperactivity in Dyt1 knockdown mice.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Disrupted motor learning and long-term synaptic plasticity in mice lacking NMDAR1 in the striatum

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Identification and characterization of epsilon-sarcoglycans in the central nervous system

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

TorsinA in the nuclear envelope

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Cloning, developmental regulation and neural localization of rat epsilon-sarcoglycan

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

ε-Sarcoglycan, a Broadly Expressed Homologue of the Gene Mutated in Limb-Girdle Muscular Dystrophy 2D

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

DeltaFY mutation in human torsin A [corrected] induces locomotor disability and abberant synaptic structures in Drosophila

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Dystonia-associated forms of torsinA are deficient in ATPase activity

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Reduced anxiety-- and depression-like behaviors in Emx1 homozygous mutant mice

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Cadherin-like domains in alpha-dystroglycan, alpha/epsilon-sarcoglycan and yeast and bacterial proteins.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491

Motor coordination and balance in rodents

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20627944

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Biochemical Fractionation of Brain Tissue for Studies of Receptor Distribution and Trafficking

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20627944

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical findings of a myoclonus-dystonia family with two distinct mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20627944

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/JB/MVQ078

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

20627944

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json