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Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.
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Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
title
Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce
(English)
1 reference
stated in
Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
author
Mark P DeAndrade
series ordinal
4
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stated in
Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
author name string
Fumiaki Yokoi
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1
1 reference
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Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
Guang Yang
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2
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2981491
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
Jindong Li
series ordinal
3
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PMCID
2981491
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
Tong Zhou
series ordinal
5
1 reference
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Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
Yuqing Li
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
publication date
13 July 2010
1 reference
stated in
Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
published in
Journal of Biochemistry
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PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
volume
148
1 reference
stated in
Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
issue
4
1 reference
stated in
Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
page(s)
459-466
1 reference
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Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
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The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro
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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
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Consequences of the DYT1 mutation on torsinA oligomerization and degradation
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Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope
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Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
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SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA
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Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum
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PubMed Central
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Disrupted motor learning and long-term synaptic plasticity in mice lacking NMDAR1 in the striatum
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Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope
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PubMed Central
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Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia
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Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.
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20 June 2018
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant
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PubMed Central
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20 June 2018
Identification and characterization of epsilon-sarcoglycans in the central nervous system
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PubMed Central
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20 June 2018
TorsinA in the nuclear envelope
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PubMed Central
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20 June 2018
Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.
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Recombinant expression, purification, and comparative characterization of torsinA and its torsion dystonia-associated variant Delta E-torsinA.
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TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress
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PubMed Central
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20 June 2018
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
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PubMed Central
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20 June 2018
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations
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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
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Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene
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epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D
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20 June 2018
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
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20 June 2018
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
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20 June 2018
DeltaFY mutation in human torsin A [corrected] induces locomotor disability and abberant synaptic structures in Drosophila
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26 November 2018
Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice
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26 November 2018
Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice.
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26 November 2018
Dystonia-associated forms of torsinA are deficient in ATPase activity
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2981491
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26 November 2018
Reduced anxiety-- and depression-like behaviors in Emx1 homozygous mutant mice
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26 November 2018
Cadherin-like domains in alpha-dystroglycan, alpha/epsilon-sarcoglycan and yeast and bacterial proteins.
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26 November 2018
Motor coordination and balance in rodents
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https://pubmed.ncbi.nlm.nih.gov/20627944
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Biochemical Fractionation of Brain Tissue for Studies of Receptor Distribution and Trafficking
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/20627944
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Clinical findings of a myoclonus-dystonia family with two distinct mutations
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/20627944
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1093/JB/MVQ078
1 reference
stated in
Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
PMCID
2981491
1 reference
stated in
Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
PubMed ID
20627944
1 reference
stated in
Europe PubMed Central
PMCID
2981491
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20627944%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
ResearchGate publication ID
45185182
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