Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics (Q24299145)

Torsin 1A interacting protein 1

GOA release 2020-03-11

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cytoskeletal protein binding

GOA release 2020-03-11

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GOA release 2020-03-11

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1 reference

Xandra O. Breakefield

object named as

Xandra O Breakefield

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author name string

Jeffrey W Hewett

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Juan Zeng

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Brian P Niland

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D Cristopher Bragg

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

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language of work or name

English

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publication date

April 2006

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published in

Neurobiology of Disease

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volume

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issue

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page(s)

98-111

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cites work

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Impaired sequence learning in carriers of the DYT1 dystonia mutation

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Microstructural white matter changes in carriers of the DYT1 gene mutation

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Brainstem pathology in DYT1 primary torsion dystonia

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Functional brain networks in DYT1 dystonia

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Beyond structure: do intermediate filaments modulate cell signalling?

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Evidence for an interaction between the cell surface and intermediate filaments in cultured fibroblasts

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

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Cathechol‐O‐methyltransferase activity in cultured human skin fibroblasts from controls and patients with dystonia musculorum deformans

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TorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases

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Functions of intermediate filaments in neuronal development and disease

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The cytoskeleton in neurodegenerative diseases

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Axonal transport defects: a common theme in neurodegenerative diseases

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Network antibodies identify nuclear lamin B as a physiological attachment site for peripherin intermediate filaments

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Mice lacking vimentin develop and reproduce without an obvious phenotype

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7 January 2021

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

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The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function.

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Developmental expression of rat torsinA transcript and protein.

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7 January 2021

TorsinA expression is detectable in human infants as young as 4 weeks old.

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7 January 2021

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

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Molecular perspectives on p97-VCP: progress in understanding its structure and diverse biological functions

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Biochemical characterization of torsinB.

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Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors

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

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7 January 2021

TorsinA accumulation in Lewy bodies in sporadic Parkinson's disease

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7 January 2021

Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain

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7 January 2021

An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments

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7 January 2021

Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt) rat.

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TorsinA protects against oxidative stress in COS-1 and PC12 cells

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7 January 2021

Role of vimentin in early stages of neuritogenesis in cultured hippocampal neurons

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TorsinA: movement at many levels

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Neurofilament functions in health and disease

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Aggresomes, inclusion bodies and protein aggregation

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Self-compartmentalizing proteases.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mechanics of vimentin intermediate filaments

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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An improved cyan fluorescent protein variant useful for FRET

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

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7 January 2021

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

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7 January 2021

Intermediate filaments mediate cytoskeletal crosstalk

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Characterization of human torsinA and its dystonia-associated mutant form

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7 January 2021

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

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7 January 2021

Overexpression of torsinA in PC12 cells protects against toxicity.

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7 January 2021

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

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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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7 January 2021

TorsinA in the nuclear envelope

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

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7 January 2021

Lamin B constitutes an intermediate filament attachment site at the nuclear envelope

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7 January 2021

The function of intermediate filaments in cell shape and cytoskeletal integrity

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7 January 2021

Rapid movements of vimentin on microtubule tracks: kinesin-dependent assembly of intermediate filament networks

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7 January 2021

Aggresomes: a cellular response to misfolded proteins

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7 January 2021

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

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7 January 2021

AAA proteins. Lords of the ring

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7 January 2021

Cargo of kinesin identified as JIP scaffolding proteins and associated signaling molecules

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7 January 2021

Role of cytoplasmic dynein in the axonal transport of microtubules and neurofilaments

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7 January 2021

Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing

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7 January 2021

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

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7 January 2021

10-nm filaments are induced to collapse in living cells microinjected with monoclonal and polyclonal antibodies against tubulin

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7 January 2021

Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations

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7 January 2021

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

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7 January 2021

A role for intermediate filaments in determining and maintaining the shape of nerve cells

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7 January 2021

The inner nuclear membrane protein LAP1 forms a native complex with B-type lamins and partitions with spindle-associated mitotic vesicles

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FJ.NBD.2005.10.012

7 January 2021

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

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7 January 2021

Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization

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Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models

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7 January 2021

TorsinB--perinuclear location and association with torsinA

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7 January 2021

The Dynamic and Motile Properties of Intermediate Filaments

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Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation

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The vimentin cytoskeleton regulates focal contact size and adhesion of endothelial cells subjected to shear stress

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Initial expression of neurofilaments and vimentin in the central and peripheral nervous system of the mouse embryo in vivo

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Deep brain stimulation in the treatment of dyskinesia and dystonia

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Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results.

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7 January 2021