Published in Tremor Other Hyperkinet Mov (N Y) on September 23, 2014
Diminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia. Acta Neuropathol Commun (2016) 0.75
AAA+ proteins: have engine, will work. Nat Rev Mol Cell Biol (2005) 7.73
Array tomography: a new tool for imaging the molecular architecture and ultrastructure of neural circuits. Neuron (2007) 6.30
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet (1997) 5.39
Phenomenology and classification of dystonia: a consensus update. Mov Disord (2013) 4.98
An open letter to our readers on the use of antibodies. J Comp Neurol (2005) 3.86
Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron (2005) 3.75
The pathophysiological basis of dystonias. Nat Rev Neurosci (2008) 3.46
Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci U S A (2004) 2.19
Antibodies as valuable neuroscience research tools versus reagents of mass distraction. J Neurosci (2006) 2.18
TorsinA in the nuclear envelope. Proc Natl Acad Sci U S A (2004) 2.06
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum Mol Genet (2000) 1.90
The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. J Cell Biol (2005) 1.89
Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. J Biol Chem (2000) 1.81
TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. J Cell Sci (2008) 1.80
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. Proc Natl Acad Sci U S A (2004) 1.78
TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation. J Neurochem (2002) 1.77
Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. Exp Neurol (2005) 1.76
Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J Neurosci (2004) 1.71
Huntington's disease--like 2 can present as chorea-acanthocytosis. Neurology (2003) 1.57
Brainstem pathology in DYT1 primary torsion dystonia. Ann Neurol (2004) 1.55
Silencing primary dystonia: lentiviral-mediated RNA interference therapy for DYT1 dystonia. J Neurosci (2005) 1.53
Primary dystonia: molecules and mechanisms. Nat Rev Neurol (2009) 1.51
A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Proc Natl Acad Sci U S A (2010) 1.51
The diagnosis of dystonia. Lancet Neurol (2006) 1.49
LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. Mol Biol Cell (2009) 1.47
Controls for immunocytochemistry: an update. J Histochem Cytochem (2011) 1.45
Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. Neurobiol Dis (2005) 1.44
Transgenic mouse model of early-onset DYT1 dystonia. Hum Mol Genet (2004) 1.42
TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress. J Neurosci Res (2003) 1.42
The transience of transient overexpression. Nat Methods (2013) 1.41
Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J Neurosci (2005) 1.41
Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. Neurobiol Dis (2007) 1.41
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis (2003) 1.39
Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum Mol Genet (2006) 1.35
Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine. Brain (2009) 1.35
Chemical enhancement of torsinA function in cell and animal models of torsion dystonia. Dis Model Mech (2010) 1.33
Abnormal motor function and dopamine neurotransmission in DYT1 DeltaGAG transgenic mice. Exp Neurol (2008) 1.29
TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration. J Clin Invest (2014) 1.28
Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion. J Biol Chem (2009) 1.26
Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope. Hum Mol Genet (2008) 1.25
The dystonia-associated protein torsinA modulates synaptic vesicle recycling. J Biol Chem (2007) 1.23
Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA. Hum Mol Genet (2009) 1.22
Regulation of Torsin ATPases by LAP1 and LULL1. Proc Natl Acad Sci U S A (2013) 1.21
Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice. J Biochem (2007) 1.18
TorsinA participates in endoplasmic reticulum-associated degradation. Nat Commun (2011) 1.18
Expression of the early-onset torsion dystonia gene (DYT1) in human brain. Ann Neurol (1998) 1.16
Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors. Neuroscience (2004) 1.16
The early onset dystonia protein torsinA interacts with kinesin light chain 1. J Biol Chem (2004) 1.16
siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells. Hum Mol Genet (2008) 1.15
Cell-autonomous alteration of dopaminergic transmission by wild type and mutant (DeltaE) TorsinA in transgenic mice. Neurobiol Dis (2010) 1.14
Developmental expression of rat torsinA transcript and protein. Brain Res Dev Brain Res (2004) 1.13
A functional role for TorsinA in herpes simplex virus 1 nuclear egress. J Virol (2011) 1.13
Consequences of the DYT1 mutation on torsinA oligomerization and degradation. Neuroscience (2008) 1.10
Recombinant expression, purification, and comparative characterization of torsinA and its torsion dystonia-associated variant Delta E-torsinA. Biochemistry (2003) 1.10
Immunohistochemical localization and distribution of torsinA in normal human and rat brain. Brain Res (2000) 1.07
TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia. Neurology (2002) 1.04
TorsinA and dystonia: from nuclear envelope to synapse. J Neurochem (2009) 1.04
A unique redox-sensing sensor II motif in TorsinA plays a critical role in nucleotide and partner binding. J Biol Chem (2010) 1.04
The importance of titrating antibodies for immunocytochemical methods. Curr Protoc Neurosci (2008) 1.03
Depolarization strongly induces human cytomegalovirus major immediate-early promoter/enhancer activity in neurons. J Biol Chem (2001) 1.02
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). J Neurol Neurosurg Psychiatry (2008) 1.02
Molecular pathways in dystonia. Neurobiol Dis (2010) 1.02
Static retention of the lumenal monotopic membrane protein torsinA in the endoplasmic reticulum. EMBO J (2011) 1.00
Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce. J Biochem (2010) 1.00
Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells. Mov Disord (2005) 1.00
A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. Am J Pathol (2001) 1.00
TorsinB--perinuclear location and association with torsinA. J Neurochem (2004) 0.97
Generation of a novel rodent model for DYT1 dystonia. Neurobiol Dis (2012) 0.96
Developmental profile of the aberrant dopamine D2 receptor response in striatal cholinergic interneurons in DYT1 dystonia. PLoS One (2011) 0.96
Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis. J Biol Chem (2009) 0.96
Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain. Brain Res (2003) 0.95
Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia. Neurobiol Dis (2010) 0.95
Engineering animal models of dystonia. Mov Disord (2013) 0.93
Immunocytochemical characterization of torsin proteins in mouse brain. Brain Res (2001) 0.92
Neuropathology of primary adult-onset dystonia. Neurology (2008) 0.92
Cellular distribution of torsin A and torsin B in normal human brain. Arch Neurol (2001) 0.92
Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA. Mol Cell Neurosci (2004) 0.91
Targeting of adoptively transferred experimental allergic encephalitis lesion at the sites of wallerian degeneration. Acta Neuropathol (1990) 0.91
Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. J Med Genet (2009) 0.90
CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process. EMBO J (2010) 0.90
The nuclear envelope localization of DYT1 dystonia torsinA-ΔE requires the SUN1 LINC complex component. BMC Cell Biol (2011) 0.90
Distribution and immunohistochemical characterization of torsinA immunoreactivity in rat brain. Brain Res (2001) 0.89
TorsinA expression is detectable in human infants as young as 4 weeks old. Brain Res Dev Brain Res (2005) 0.89
Evidence for early blood-brain barrier breakdown in experimental thiamine deficiency in the mouse. Metab Brain Dis (1995) 0.88
TorsinA negatively controls neurite outgrowth of SH-SY5Y human neuronal cell line. Brain Res (2004) 0.88
TorsinA accumulation in Lewy bodies in sporadic Parkinson's disease. Brain Res (2000) 0.87
Exploring the influence of torsinA expression on protein quality control. Neurochem Res (2010) 0.86
RNAi blocks DYT1 mutant torsinA inclusions in neurons. Neurosci Lett (2005) 0.85
Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells. Neurosci Lett (2002) 0.85
Influence of different promoters on the expression pattern of mutated human alpha-synuclein in transgenic mice. Neurodegener Dis (2004) 0.84
Glial elements contribute to stress-induced torsinA expression in the CNS and peripheral nervous system. Neuroscience (2008) 0.84
Transient expression of human TorsinA enhances secretion of two functionally distinct proteins in cultured Chinese hamster ovary (CHO) cells. Biotechnol Bioeng (2010) 0.83
Transcriptional and proteomic profiling in a cellular model of DYT1 dystonia. Neuroscience (2009) 0.82
Mutant torsinA interacts with tyrosine hydroxylase in cultured cells. Neuroscience (2009) 0.82
TorsinA and DYT1 dystonia: a synaptopathy? Biochem Soc Trans (2010) 0.82
Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology (2002) 0.82
Development and anatomic localization of torsinA. Adv Neurol (2004) 0.81
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations. Hum Mutat (2014) 0.81
TorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases. Mov Disord (2003) 0.80
Genetic animal models of dystonia: common features and diversities. Prog Neurobiol (2014) 0.80