Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models (Q35688598)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22080833%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models (English)

1 reference

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16 January 2020

1 reference

1 reference

1 reference

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16 January 2020

Fumiaki Yokoi

1 reference

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16 January 2020

Mai T Dang

series ordinal

1 reference

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16 January 2020

Tong Zhou

series ordinal

1 reference

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16 January 2020

language of work or name

1 reference

11 November 2011

1 reference

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16 January 2020

published in

Human Molecular Genetics

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16 January 2020

volume

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16 January 2020

issue

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16 January 2020

page(s)

916-925

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Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout mice

16 January 2020

cites work

1 reference

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

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12 July 2018

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Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

12 July 2018

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Myoclonus-dystonia: an update

12 July 2018

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TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton

12 July 2018

1 reference

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Electrophysiological features of myoclonus-dystonia

12 July 2018

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The pathophysiological basis of dystonias.

12 July 2018

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DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

12 July 2018

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

12 July 2018

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Dystonia in Parkinson's disease

12 July 2018

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Motor deficits and hyperactivity in Dyt1 knockdown mice.

12 July 2018

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

12 July 2018

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Zeta-sarcoglycan is a functional homologue of gamma-sarcoglycan in the formation of the sarcoglycan complex

12 July 2018

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

12 July 2018

1 reference

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

12 July 2018

1 reference

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

12 July 2018

1 reference

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Myoclonus: current concepts and recent advances.

12 July 2018

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Stages in the development of Parkinson's disease-related pathology

12 July 2018

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

12 July 2018

1 reference

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TorsinA in the nuclear envelope

12 July 2018

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Limb-girdle muscular dystrophies--from genetics to molecular pathology

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

1 reference

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Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

12 July 2018

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Subacute systemic 3-nitropropionic acid intoxication induces a distinct motor disorder in adult C57Bl/6 mice: behavioural and histopathological characterisation

12 July 2018

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Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy

12 July 2018

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

12 July 2018

1 reference

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PDZ domains and the organization of supramolecular complexes

12 July 2018

1 reference

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Nuclear envelope proteins and associated diseases

12 July 2018

1 reference

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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

12 July 2018

1 reference

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

12 July 2018

1 reference

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263984

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

12 July 2018

1 reference

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A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells

12 July 2018

1 reference

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Concept and classification of dystonia

12 July 2018

1 reference

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Site-specific DNA recombination in mammalian cells by the Cre recombinase of bacteriophage P1

12 July 2018

1 reference

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Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia.

12 July 2018

1 reference

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Reduced striatal D2 receptor binding in myoclonus-dystonia

25 September 2018

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

25 September 2018

1 reference

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

25 September 2018

1 reference

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Increased seizure susceptibility and cortical malformation in beta-catenin mutant mice

25 September 2018

1 reference

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Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations

25 September 2018

1 reference

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263984

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

25 September 2018

1 reference

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Dopamine transmission in DYT1 dystonia: a biochemical and autoradiographical study

25 September 2018

1 reference

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

25 September 2018

1 reference

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

25 September 2018

1 reference

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Normal cortical excitability in Myoclonus-Dystonia — A TMS study

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263984

Refinement of the DYT15 locus in myoclonus dystonia

15 November 2018

1 reference

12 December 2020

Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations

1 reference

12 December 2020

Cortical excitability in DYT-11 positive myoclonus dystonia

1 reference

12 December 2020

Microstructural white matter changes in carriers of the DYT1 gene mutation

1 reference

12 December 2020

Widespread recombinase expression using FLPeR (flipper) mice

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDR528

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22080833%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22080833%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

22080833

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22080833%20AND%20SRC:MED&resulttype=core&format=json