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Jeffrey W. Hewett et al.
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Lisa M. Giles et al.
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The pathophysiological basis of dystonias
Xandra O. Breakefield et al.
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CONSEQUENCES OF THE DYT1 MUTATION ON torsinA OLIGOMERIZATION AND DEGRADATION
K. L. Gordon et al.
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Shusei Hamamichi et al.
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William E. Balch et al.
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Larry J. Bischof et al.
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Overexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities
K. Grundmann et al.
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Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia
Neil J. Risch et al.
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Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
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Christopher T. Esapa et al.
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Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum
Anna C. Callan et al.
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Substrate-specific translocational attenuation during ER stress defines a pre-emptive quality control pathway
Sang-Wook Kang et al.
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Genetic interactions among cortical malformation genes that influence susceptibility to convulsions in C-elegans
Cody J. Locke et al.
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Down-regulation of torp4a, encoding the Drosophila homologue of TorsinA, results in increased neuronal degeneration
Nara I. Muraro et al.
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Protein aggregation in crowded environments
R. John Ellis et al.
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Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier
N Kock et al.
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Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
JW Hewett et al.
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Developmental patterns of torsinA and torsinB expression
A Vasudevan et al.
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Generation and characterization of Dyt1 ΔGAG knock-in mouse as a model for early-onset dystonia
MT Dang et al.
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Genetic interactions due to constitutive and inducible gene regulation mediated by the unfolded protein response in C-elegans
XH Shen et al.
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AAA+ proteins: Have engine, will work
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Torsin-mediated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans
SS Cao et al.
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Aberrant cellular Behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia
P Gonzalez-Alegre et al.
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Overexpression of torsinA in PC12 cells protects against toxicity
P Shashidharan et al.
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Principles of protein folding, misfolding and aggregation
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TorsinA, the gene linked to early-onset dystonia, is upregulated by the dopaminergic toxin MPTP in mice
R Kuner et al.
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Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation
RE Goodchild et al.
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Developmental expression of rat torsinA transcript and protein
HF Xiao et al.
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Misfolded proteins, endoplasmic reticulum stress and neurodegeneration
RV Rao et al.
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Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated ΔE-torsinA mutant
GE Torres et al.
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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
DC Bragg et al.
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TorsinA in the nuclear envelope
TV Naismith et al.
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Characterization of human torsinA and its dystonia-associated mutant form
ZH Liu et al.
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TorsinA in PC12 cells: Localization in the endoplasmic reticulum and response to stress
J Hewett et al.
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Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins
GA Caldwell et al.
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TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion
K Rostasy et al.
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TorsinA and heat shock proteins act as molecular chaperones:: suppression of α-synuclein aggregation
PJ McLean et al.
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IRE1 couples endoplasmic reticulum load to secretory capacity by processing the XBP-1 mRNA
M Calfon et al.
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Complementary signaling pathways regulate the unfolded protein response and are required for C-elegans development
XH Shen et al.
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Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
A Zimprich et al.
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Functional and genomic analyses reveal an essential coordination between the unfolded protein response and ER-associated degradation
KJ Travers et al.
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Immunohistochemical localization and distribution of torsinA in normal human and rat brain
P Shashidharan et al.
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