(Q30670034)

12 August 2017

A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation (English)

1 reference

12 August 2017

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26370418%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Corinne E Weisheit

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26370418%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

publication date

14 September 2015

1 reference

12 August 2017

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26370418%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26370418%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26370418%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

6459-6472

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26370418%20AND%20SRC:MED&resulttype=core&format=json

Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons

2 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

Dystonia and cerebellar degeneration in the leaner mouse 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=4614706

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

Short latency cerebellar modulation of the basal ganglia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

How lamina-associated polypeptide 1 (LAP1) activates Torsin.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

Mouse models of neurodevelopmental disease of the basal ganglia and associated circuits.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

Conditional disruption of interactions between Gαi2 and regulator of G protein signaling (RGS) proteins protects the heart from ischemic injury

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

Dystonia as a network disorder: what is the role of the cerebellum?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

Regulation of Torsin ATPases by LAP1 and LULL1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

Experience-dependent plasticity in white matter microstructure: reasoning training alters structural connectivity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

Limited regional cerebellar dysfunction induces focal dystonia 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=4614706

Genetic background modulates the phenotype of a mouse model of DYT1 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=4614706

Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout 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=4614706

The nuclear envelope localization of DYT1 dystonia torsinA-ΔE requires the SUN1 LINC complex component.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

Altered dendritic morphology of Purkinje cells in Dyt1 ΔGAG knock-in and purkinje cell-specific Dyt1 conditional knockout 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=4614706

Cerebellothalamocortical pathway abnormalities in torsinA DYT1 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=4614706

Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

Cell-autonomous alteration of dopaminergic transmission by wild type and mutant (DeltaE) TorsinA in transgenic 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=4614706

Cerebellothalamocortical connectivity regulates penetrance in 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=4614706

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

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=4614706

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=4614706

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=4614706

Impaired motor learning in mice expressing torsinA with the DYT1 dystonia 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=4614706

The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER 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=4614706

A Cre/loxP-deleter transgenic line in mouse strain 129S1/SvImJ.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

Two lineage boundaries coordinate vertebrate apical ectodermal ridge formation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614706

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=4614706

Brainstem pathology in DYT1 primary torsion dystonia

20 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV355

Transgenic mouse model of early-onset DYT1 dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV355

Grid performance test to measure behavioral impairment in the MPTP-treated-mouse model of parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV355

Primary dystonia: is abnormal functional brain architecture linked to genotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV355

Evaluation of Approaches to Generation of Tissue-specific Knock-in Mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV355

Microstructural white matter changes in carriers of the DYT1 gene mutation

21 January 2018

1 reference

12 December 2020

Production of conditional point mutant knockin mice

1 reference

12 December 2020

Generation of a conditional CREB Ser133Ala knockin mouse

1 reference

12 December 2020

Generation of a novel rodent model for DYT1 dystonia

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDV355

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26370418%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26370418%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

PubMed publication ID

26370418

1 reference