Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction (Q34638417)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611399%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction (English)

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1 February 2020

0 references

2

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1 February 2020

Rashmi Kothary

3

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1 February 2020

Xandra O. Breakefield

4

object named as

Xandra O Breakefield

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1 February 2020

author name string

Nadia A Atai

1

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1 February 2020

Flávia C Nery

5

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publication date

6 May 2012

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International Journal of Cell Biology

1 February 2020

published in

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1 February 2020

volume

2012

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1 February 2020

page(s)

634214

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Creative Commons Attribution 3.0 Unported

1 February 2020

copyright license

start time

1 January 2012

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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April 2022 Public Data File from Crossref

cites work

Animal models for drug discovery in dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Clathrin is required for postmitotic Golgi reassembly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

MAP1B and clathrin are novel interacting partners of the giant cyto-linker dystonin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Developmental profile of the aberrant dopamine D2 receptor response in striatal cholinergic interneurons in DYT1 dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Neuronal protein trafficking: emerging consequences of endoplasmic reticulum dynamics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The N-end rule pathway: from recognition by N-recognins, to destruction by AAA+proteases.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

TorsinA participates in endoplasmic reticulum-associated degradation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Motor unit abnormalities in Dystonia musculorum mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Myasthenic syndrome caused by plectinopathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Update on the pathology of dystonia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Nesprins LINC the nucleus and cytoskeleton

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Exploring the influence of torsinA expression on protein quality control

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Molecular pathways in dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

A unique redox-sensing sensor II motif in TorsinA plays a critical role in nucleotide and partner binding

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Keeping the vimentin network under control: cell-matrix adhesion-associated plectin 1f affects cell shape and polarity of fibroblasts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The role of torsinA in dystonia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

A molecular mechanism underlying the neural-specific defect in torsinA mutant mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Genetics of primary torsion dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The spectraplakin Short stop is an actin-microtubule cross-linker that contributes to organization of the microtubule network

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Nervous-tissue-specific elimination of microtubule-actin crosslinking factor 1a results in multiple developmental defects in the mouse brain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivo

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Transient expression of human TorsinA enhances secretion of two functionally distinct proteins in cultured Chinese hamster ovary (CHO) cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Mutant torsinA interacts with tyrosine hydroxylase in cultured cells.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Golgi-derived CLASP-dependent microtubules control Golgi organization and polarized trafficking in motile cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Bringing KASH under the SUN: the many faces of nucleo-cytoskeletal connections

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

TorsinA and dystonia: from nuclear envelope to synapse.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Microtubule nucleation at the cis-side of the Golgi apparatus requires AKAP450 and GM130

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Impaired striatal D2 receptor function leads to enhanced GABA transmission in a mouse model of DYT1 dystonia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Nesprin 4 is an outer nuclear membrane protein that can induce kinesin-mediated cell polarization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

ERK regulates Golgi and centrosome orientation towards the leading edge through GRASP65.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Diversity of degradation signals in the ubiquitin-proteasome system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The basal ganglia and cerebellum interact in the expression of dystonic movement

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Dystonin/Bpag1 is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The torsin-family AAA+ protein OOC-5 contains a critical disulfide adjacent to Sensor-II that couples redox state to nucleotide binding

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Glial elements contribute to stress-induced torsinA expression in the CNS and peripheral nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The dystonia-associated protein torsinA modulates synaptic vesicle recycling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Communication between the cytoskeleton and the nuclear envelope to position the nucleus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Intermediate filaments: from cell architecture to nanomechanics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Plakins in development and disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Retrolinkin, a membrane protein, plays an important role in retrograde axonal transport

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Structural analysis of the plakin domain of bullous pemphigoid antigen1 (BPAG1) suggests that plakins are members of the spectrin superfamily

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

KASH-domain proteins in nuclear migration, anchorage and other processes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Motor deficits and hyperactivity in Dyt1 knockdown mice.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The diagnosis of dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Endoplasmic reticulum stress in health and disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Developmental patterns of torsinA and torsinB expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Animal models of generalized dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Coupling of the nucleus and cytoplasm: role of the LINC complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Nesprin-3, a novel outer nuclear membrane protein, associates with the cytoskeletal linker protein plectin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

A Bpag1 isoform involved in cytoskeletal organization surrounding the nucleus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The inner nuclear membrane protein Sun1 mediates the anchorage of Nesprin-2 to the nuclear envelope

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Microtubule actin crosslinking factor 1b: a novel plakin that localizes to the Golgi complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

AAA+ proteins: have engine, will work

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Bullous pemphigoid antigen 1 isoforms: potential new target autoantigens in multiple sclerosis?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Structural determinants for EB1-mediated recruitment of APC and spectraplakins to the microtubule plus end.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Intermediate filaments mediate cytoskeletal crosstalk

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Biochemical characterization of torsinB.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

TorsinA negatively controls neurite outgrowth of SH-SY5Y human neuronal cell line

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

TorsinB--perinuclear location and association with torsinA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

TorsinA in the nuclear envelope

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The early onset dystonia protein torsinA interacts with kinesin light chain 1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

A role for the spectrin superfamily member Syne-1 and kinesin II in cytokinesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

ACF7: an essential integrator of microtubule dynamics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

BPAG1n4 is essential for retrograde axonal transport in sensory neurons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The 'spectraplakins': cytoskeletal giants with characteristics of both spectrin and plakin families

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The spectrin repeat: a structural platform for cytoskeletal protein assemblies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Novel alternative splicings of BPAG1 (bullous pemphigoid antigen 1) including the domain structure closely related to MACF (microtubule actin cross-linking factor)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Synergistic effects of MAP2 and MAP1B knockout in neuronal migration, dendritic outgrowth, and microtubule organization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The BPAG1 locus: Alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

TorsinA: movement at many levels

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Cellular distribution of torsin A and torsin B in normal human brain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Bridging cytoskeletal intersections.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

MAP1B is required for axon guidance and Is involved in the development of the central and peripheral nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Characterization of the microtubule binding domain of microtubule actin crosslinking factor (MACF): identification of a novel group of microtubule associated proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Localization of dopaminergic markers in the human subthalamic nucleus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The DYT1 phenotype and guidelines for diagnostic testing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The TOR1A (DYT1) gene family and its role in early onset torsion dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Microtubule actin cross-linking factor (MACF): a hybrid of dystonin and dystrophin that can interact with the actin and microtubule cytoskeletons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Dystonin-deficient mice exhibit an intrinsic muscle weakness and an instability of skeletal muscle cytoarchitecture

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The intermediate filament protein peripherin is the specific interaction partner of mouse BPAG1-n (dystonin) in neurons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Role of plectin in cytoskeleton organization and dynamics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Dystonin is an essential component of the Schwann cell cytoskeleton at the time of myelination

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Components involved in peroxisome import, biogenesis, proliferation, turnover, and movement

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Sequence analysis of the AAA protein family

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Cytoskeleton: missing links found?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Cloning and characterization of mouse ACF7, a novel member of the dystonin subfamily of actin binding proteins.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Bullous pemphigoid and multiple sclerosis: a report of three cases and review of the literature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Dystonin expression in the developing nervous system predominates in the neurons that degenerate in dystonia musculorum mutant mice.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Cloning and characterization of the neural isoforms of human dystonin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Cell adhesion molecules as targets of autoantibodies in pemphigus and pemphigoid, bullous diseases due to defective epidermal cell adhesion.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Pallidoluysian atrophy: dystonia and basal ganglia functional anatomy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Movement disorders following lesions of the thalamus or subthalamic region

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Human homolog of a mouse sequence from the dystonia musculorum locus is on chromosome 6p12

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

A 200-amino acid ATPase module in search of a basic function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Primary dystonias: a review of the pathology and suggestions for new directions of study.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Concept and classification of dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Neuropharmacological correlates of the motor syndrome of the genetically dystonic (dt) rat.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Progressive dystonia following resuscitation from cardiac arrest

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Internuclear exchange of an inner nuclear membrane protein (p55) in heterokaryons: in vivo evidence for the interaction of p55 with the nuclear lamina

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Genetic and age related models of neurodegeneration in mice: dystrophic axons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Changes in whole tissue biosynthesis of γ-amino butyric acid (GABA) in basal ganglia of the dystonia (dtAlb) mouse

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

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

7 July 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Brainstem pathology in DYT1 primary torsion dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Transgenic mouse model of early-onset DYT1 dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Sun1 forms immobile macromolecular assemblies at the nuclear envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

CLINICAL AND PATHOLOGICAL STUDIES OF AN HEREDITARY NEUROPATHY IN MICE (DYSTONIA MUSCULORUM)

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Walker-A threonine couples nucleotide occupancy with the chaperone activity of the AAA+ ATPase ClpB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

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/10.1155%2F2012%2F634214

Mutations in DYT1: extension of the phenotypic and mutational spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Developmental expression of rat torsinA transcript and protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

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/10.1155%2F2012%2F634214

Microarray analysis reveals induction of heat shock proteins mRNAs by the torsion dystonia protein, TorsinA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Dopamine release is impaired in a mouse model of DYT1 dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

TorsinB expression in the developing human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

A Drosophila model of early onset torsion dystonia suggests impairment in TGF-beta signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Mutations in ooc-5 and ooc-3 disrupt oocyte formation and the reestablishment of asymmetric PAR protein localization in two-cell Caenorhabditis elegans embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Impaired fast axonal transport in neurons of the sciatic nerves from dystonia musculorum mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

A new twist on the anatomy of dystonia: the basal ganglia and the cerebellum?

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Cerebral and cerebellar activation in correlation to the action-induced dystonia in writer's cramp.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Cerebral activation patterns in patients with writer's cramp: a functional magnetic resonance imaging study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

The metabolic topography of essential blepharospasm: a focal dystonia with general implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Cerebellectomy eliminates the motor syndrome of the genetically dystonic rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

A possible cellular mechanism of neuronal loss in the dorsal root ganglia of Dystonia musculorum (dt) mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Prenatal onset of axonopathy in Dystonia musculorum mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Expression of c-FOS in the brain after activation of L-type calcium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Sera of elderly bullous pemphigoid patients with associated neurological diseases recognize bullous pemphigoid antigens in the human brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

A patient with both bullous pemphigoid and epidermolysis bullosa acquisita: an example of intermolecular epitope spreading.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

TorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Short Stop provides an essential link between F-actin and microtubules during axon extension.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3352338

Overactive prefrontal and underactive motor cortical areas in idiopathic dystonia

26 October 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

Predominant dystonia with marked cerebellar atrophy: A rare phenotype in familial dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2012%2F634214

21 January 2018

Peroxisome biogenesis

1 reference

12 December 2020

Here come the SUNs: a nucleocytoskeletal missing link

1 reference

12 December 2020

Dystonin/Bpag1--a link to what?

1 reference

12 December 2020

Bullous pemphigoid and multiple sclerosis

1 reference

12 December 2020

An allele of the mouse mutant dystonia musculorum exhibits lesions in red nucleus and striatum

1 reference

12 December 2020

TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia

1 reference

12 December 2020

Dystonin transcripts are altered and their levels are reduced in the mouse neurological mutant dt24J

1 reference

12 December 2020

Selective elimination of cerebellar output in the genetically dystonic rat

1 reference

12 December 2020

Dissecting the sequence specific functions of alternative N-terminal isoforms of mouse bullous pemphigoid antigen 1

1 reference

12 December 2020

Humoral immunity in brain aging and Alzheimer's disease

1 reference

12 December 2020

Purkinje cell activity in rats following chronic treatment with harmaline

1 reference

12 December 2020

A Retrospective Epidemiological Study on the Association of Bullous Pemphigoid and Neurological Diseases

1 reference

12 December 2020

Bullous pemphigoid in a leg affected with hemiparesia: a possible relation of neurological diseases with bullous pemphigoid?

1 reference

12 December 2020

Bullous pemphigoid in a patient with Parkinson's disease

1 reference

12 December 2020

Investigation of the role of the cerebellum in the myoclonic-like movement disorder exhibited by tottering mice

1 reference

12 December 2020

Multiple sclerosis and bullous pemphigoid: a casual association or a pathogenetic correlation?

1 reference

12 December 2020

Genetic alterations at the Bpag1 locus in dt mice and their impact on transcript expression

1 reference

12 December 2020

Pathologic changes in the CNS of dystonia musculorum mutant mouse: an animal model for human spinocerebellar ataxia

1 reference

12 December 2020

Risk factors for bullous pemphigoid in the elderly: a prospective case-control study

1 reference

12 December 2020

Abnormal cellular translocation of alpha-internexin in spinal motor neurons of Dystonia musculorum mice

1 reference

12 December 2020

Identifiers

DOI

10.1155/2012/634214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611399%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611399%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22611399%20AND%20SRC:MED&resulttype=core&format=json