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SUN1/2 and Syne/Nesprin-1/2 Complexes Connect Centrosome to the Nucleus during Neurogenesis and Neuronal Migration in Mice
Xiaochang Zhang et al.
NEURON (2009)
Walker-A threonine couples nucleotide occupancy with the chaperone activity of the AAA plus ATPase ClpB
Maria Nagy et al.
PROTEIN SCIENCE (2009)
The basal ganglia and cerebellum interact in the expression of dystonic movement
Vladimir K. Neychev et al.
BRAIN (2008)
Phosphatidic acid mediates demyelination in Lpin1 mutant mice
Karim Nadra et al.
GENES & DEVELOPMENT (2008)
siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells
Jeffrey W. Hewett et al.
HUMAN MOLECULAR GENETICS (2008)
Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope
Lisa M. Giles et al.
HUMAN MOLECULAR GENETICS (2008)
TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton
Flavia C. Nery et al.
JOURNAL OF CELL SCIENCE (2008)
The torsin-family AAA plus protein OOC-5 contains a critical disulfide adjacent to Sensor-II that couples redox state to nucleotide binding
Li Zhu et al.
MOLECULAR BIOLOGY OF THE CELL (2008)
DYT16, a novel young-onset dystonia-parkinson ism disorder:: identification of a segregating mutation in the stress-response protein PRKRA
Sarah Camargos et al.
LANCET NEUROLOGY (2008)
Beyond polymer polarity: how the cytoskeleton builds a polarized cell
Rong Li et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2008)
CONSEQUENCES OF THE DYT1 MUTATION ON torsinA OLIGOMERIZATION AND DEGRADATION
K. L. Gordon et al.
NEUROSCIENCE (2008)
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
Alessandra Granata et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study
Maren Carbon et al.
BRAIN (2008)
Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice
Fumiaki Yokoi et al.
JOURNAL OF BIOCHEMISTRY (2008)
The cellular functions of the yeast lipin homolog pah1p are dependent on its phosphatidate phosphatase activity
Gil-Soo Han et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites
Rachel Saunders-Pullman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Voxel based morphometry reveals specific gray matter changes in primary dystonia
Karl Egger et al.
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
Mauro Costa-Mattioli et al.
CELL (2007)
Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia:: a prospective 3 year follow-up study
Marie Vidailhet et al.
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
Anna C. Callan et al.
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
A. Pisani et al.
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
Beat Thoeny et al.
HUMAN MUTATION (2006)
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
MT Dang et al.
EXPERIMENTAL NEUROLOGY (2005)
Centrosome localization determines neuronal polarity
FC de Anda et al.
NATURE (2005)
AAA+ proteins: Have engine, will work
PI Hanson et al.
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.
JOURNAL OF CELL BIOLOGY (2005)
Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation
K Asanuma et al.
NEUROLOGY (2005)
Conserved arginine residues implicated in ATP hydrolysis, nucleotide-sensing, and inter-subunit interactions in AAA and AAA+ ATPases
T Ogura et al.
JOURNAL OF STRUCTURAL BIOLOGY (2004)
Aberrant cellular Behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia
P Gonzalez-Alegre et al.
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
GE Torres et al.
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
KS McNaught et al.
ANNALS OF NEUROLOGY (2004)
Recombinant expression, purification, and comparative characterization of torsinA and its torsion dystonia-associated variant ΔE-torsinA
K Kustedjo et al.
BIOCHEMISTRY (2003)
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
MJ Baptista et al.
NEUROSCIENCE LETTERS (2003)
TorsinA in PC12 cells: Localization in the endoplasmic reticulum and response to stress
J Hewett et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2003)
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion
K Rostasy et al.
NEUROBIOLOGY OF DISEASE (2003)
Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm
P Opal et al.
MOVEMENT DISORDERS (2002)
Focal limb dystonia in a patient with a cerebellar mass
F Alarcón et al.
ARCHIVES OF NEUROLOGY (2001)
Kinetic analysis of translocation through nuclear pore complexes
K Ribbeck et al.
EMBO JOURNAL (2001)
Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus
P Coubes et al.
LANCET (2000)
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
J Hewett et al.
HUMAN MOLECULAR GENETICS (2000)