Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant
about
The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitroThe dystonia-associated protein torsinA modulates synaptic vesicle recyclingCSN complex controls the stability of selected synaptic proteins via a torsinA-dependent processLULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutationTorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeletonPrintor, a novel torsinA-interacting protein implicated in dystonia pathogenesisTorsins: not your typical AAA+ ATPasesMutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stabilityDystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelopeEarlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegenerationTor1a+/- mice develop dystonia-like movements via a striatal dopaminergic dysregulation triggered by peripheral nerve injury.Cholinergic dysregulation produced by selective inactivation of the dystonia-associated protein torsinA.The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.Cell-autonomous alteration of dopaminergic transmission by wild type and mutant (DeltaE) TorsinA in transgenic mice.Mutant torsinA interacts with tyrosine hydroxylase in cultured cells.Convergent evidence for abnormal striatal synaptic plasticity in dystonia.Protein homeostasis of a metastable subproteome associated with Alzheimer's disease.TorsinA and the torsinA-interacting protein printor have no impact on endoplasmic reticulum stress or protein trafficking in yeast.Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout miceBiochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1AThe early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.Dysregulation of striatal dopamine release in a mouse model of dystonia.Current Gaps in the Understanding of the Subcellular Distribution of Exogenous and Endogenous Protein TorsinA.A unique redox-sensing sensor II motif in TorsinA plays a critical role in nucleotide and partner binding.The zebrafish homologue of the human DYT1 dystonia gene is widely expressed in CNS neurons but non-essential for early motor system development4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.Evaluation of TorsinA as a target for Parkinson disease therapy in mouse modelsMutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunctionGenetic and clinical features of primary torsion dystonia.Torsin A Localization in the Mouse Cerebellar Synaptic Circuitry.Decreased dopamine receptor 1 activity and impaired motor-skill transfer in Dyt1 ΔGAG heterozygous knock-in mice.Pre-synaptic release deficits in a DYT1 dystonia mouse model.Behavioral and electrophysiological characterization of Dyt1 heterozygous knockout mice.Inherited isolated dystonia: clinical genetics and gene function.An anticholinergic reverses motor control and corticostriatal LTD deficits in Dyt1 ΔGAG knock-in mice.Motor deficits and hyperactivity in Dyt1 knockdown mice.Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons.
P2860
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P2860
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant
description
2004 nî lūn-bûn
@nan
2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@ast
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@en
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@en-gb
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@nl
type
label
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@ast
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@en
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@en-gb
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@nl
prefLabel
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@ast
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@en
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@en-gb
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@nl
P2093
P2860
P921
P3181
P356
P1476
Effect of torsinA on membrane ...... sociated DeltaE-torsinA mutant
@en
P2093
Ava L Sweeney
Gonzalo E Torres
Jean-Martin Beaulieu
Marc G Caron
Pullani Shashidharan
P2860
P304
P3181
P356
10.1073/PNAS.0308088101
P407
P577
2004-11-02T00:00:00Z