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Phosphatidic acid mediates demyelination in Lpin1 mutant mice
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siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells
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Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope
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TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton
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The torsin-family AAA plus protein OOC-5 contains a critical disulfide adjacent to Sensor-II that couples redox state to nucleotide binding
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DYT16, a novel young-onset dystonia-parkinson ism disorder:: identification of a segregating mutation in the stress-response protein PRKRA
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CONSEQUENCES OF THE DYT1 MUTATION ON torsinA OLIGOMERIZATION AND DEGRADATION
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Glial elements contribute to stress-induced torsinA expression in the CNS and peripheral nervous system
Y. Zhao et al.
NEUROSCIENCE (2008)
The dystonia-associated protein torsinA modulates synaptic vesicle recycling
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Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study
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Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice
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The cellular functions of the yeast lipin homolog pah1p are dependent on its phosphatidate phosphatase activity
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Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Voxel based morphometry reveals specific gray matter changes in primary dystonia
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MOVEMENT DISORDERS (2007)
A saturated FG-repeat hydrogel can reproduce the permeability properties of nuclear pore complexes
Steffen Frey et al.
CELL (2007)
Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
Jeffrey W. Hewett et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
eIF2α phosphorylation bidirectionally regulates the switch from short- to long-term synaptic plasticity and memory
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CELL (2007)
Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia:: a prospective 3 year follow-up study
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LANCET NEUROLOGY (2007)
Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns
Jimmy Donkor et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum
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BIOCHEMICAL JOURNAL (2007)
Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia
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NEUROBIOLOGY OF DISEASE (2006)
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase
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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.
HUMAN MOLECULAR GENETICS (2006)
Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope
RE Goodchild et al.
NEURON (2005)
Generation and characterization of Dyt1 ΔGAG knock-in mouse as a model for early-onset dystonia
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Centrosome localization determines neuronal polarity
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NATURE REVIEWS MOLECULAR CELL BIOLOGY (2005)
The AAA plus protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein
RE Goodchild et al.
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Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation
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NEUROLOGY (2005)
Conserved arginine residues implicated in ATP hydrolysis, nucleotide-sensing, and inter-subunit interactions in AAA and AAA+ ATPases
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Aberrant cellular Behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia
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JOURNAL OF NEUROSCIENCE (2004)
Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation
RE Goodchild et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated ΔE-torsinA mutant
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
TorsinA in the nuclear envelope
TV Naismith et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Brainstem pathology in DYT1 primary torsion dystonia
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Recombinant expression, purification, and comparative characterization of torsinA and its torsion dystonia-associated variant ΔE-torsinA
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Characterization of human torsinA and its dystonia-associated mutant form
ZH Liu et al.
BIOCHEMICAL JOURNAL (2003)
Microarray analysis reveals induction of heat shock proteins mRNAs by the torsion dystonia protein, TorsinA
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TorsinA in PC12 cells: Localization in the endoplasmic reticulum and response to stress
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TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion
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Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm
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Kinetic analysis of translocation through nuclear pore complexes
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EMBO JOURNAL (2001)
Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus
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Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
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HUMAN MOLECULAR GENETICS (2000)
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