Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.
about
The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitrop58IPK is an inhibitor of the eIF2α kinase GCN2 and its localization and expression underpin protein synthesis and ER processing capacityLULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutationA pathway sensor for genome-wide screens of intracellular proteolytic cleavageTorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeletonActivated Rac1 GTPase translocates protein phosphatase 5 to the cell membrane and stimulates phosphatase activity in vitroDtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolismTorsins: not your typical AAA+ ATPasesMutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stabilityEndoplasmic reticulum stress and unfolded protein response in renal pathophysiology: Janus facesA Highly Immunogenic and Protective Middle East Respiratory Syndrome Coronavirus Vaccine Based on a Recombinant Measles Virus Vaccine Platform.Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.Impaired striatal D2 receptor function leads to enhanced GABA transmission in a mouse model of DYT1 dystonia.TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegenerationIn vivo imaging reveals impaired connectivity across cortical and subcortical networks in a mouse model of DYT1 dystonia.A highly sensitive assay for monitoring the secretory pathway and ER stress.Secreted Gaussia luciferase as a biomarker for monitoring tumor progression and treatment response of systemic metastases.Chemical enhancement of torsinA function in cell and animal models of torsion dystonia.The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.Secreted luciferase for in vivo evaluation of systemic protein delivery in miceTorsinA 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.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.Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunctionGenetic and clinical features of primary torsion dystonia.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.Commentary: Dopaminergic dysfunction in DYT1 dystonia.Inherited isolated dystonia: clinical genetics and gene function.The pathogenic human Torsin A in Drosophila activates the unfolded protein response and increases susceptibility to oxidative stress.An anticholinergic reverses motor control and corticostriatal LTD deficits in Dyt1 ΔGAG knock-in mice.Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons.Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-outA predictable worm: application of Caenorhabditis elegans for mechanistic investigation of movement disorders.Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.Mouse models of neurodevelopmental disease of the basal ganglia and associated circuits.
P2860
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P2860
Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.
description
2007 nî lūn-bûn
@nan
2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutant torsinA interferes with ...... athway in DYT1 dystonia cells.
@ast
Mutant torsinA interferes with ...... athway in DYT1 dystonia cells.
@en
Mutant torsinA interferes with ...... athway in DYT1 dystonia cells.
@nl
type
label
Mutant torsinA interferes with ...... athway in DYT1 dystonia cells.
@ast
Mutant torsinA interferes with ...... athway in DYT1 dystonia cells.
@en
Mutant torsinA interferes with ...... athway in DYT1 dystonia cells.
@nl
prefLabel
Mutant torsinA interferes with ...... athway in DYT1 dystonia cells.
@ast
Mutant torsinA interferes with ...... athway in DYT1 dystonia cells.
@en
Mutant torsinA interferes with ...... athway in DYT1 dystonia cells.
@nl
P2093
P2860
P356
P1476
Mutant torsinA interferes with ...... athway in DYT1 dystonia cells.
@en
P2093
Bakhos Tannous
Brian P Niland
Flavia C Nery
Jeffrey W Hewett
Xandra O Breakefield
P2860
P304
P356
10.1073/PNAS.0701185104
P407
P577
2007-04-11T00:00:00Z