References
- 1AlbaneseABhatiaKBressmanSBet alPhenomenology and classification of dystonia: A consensus updateMov Disord20132886387323649720
- 2OzeliusLJHewettJWPageCEet alThe early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinNat Genet19971740489288096
- 3GeyerHLBressmanSBThe diagnosis of dystoniaLancet Neurol2006578079016914406
- 4BreakefieldXOBloodAJLiYHallettMHansonPIStandaertDGThe pathophysiological basis of dystoniasNat Rev Neurosci2008922223418285800
- 5TanabeLMKimCEAlagemNDauerWTPrimary dystonia: Molecules and mechanismsNat Rev Neurol2009559860919826400
- 6BraggDCArmataIANeryFCBreakefieldXOSharmaNMolecular pathways in dystoniaNeurobiol Dis20114213614721134457
- 7HansonPIWhiteheartSWAAA+ proteins: Have engine, will workNat Rev Mol Cell Biol2005651952916072036
- 8ZhaoCBrownRSChaseAREiseleMRSchliekerCRegulation of Torsin ATPases by LAP1 and LULL1Proc Natl Acad Sci USA2013110E1545155423569223
- 9GranataASchiavoGWarnerTTTorsinA and dystonia: From nuclear envelope to synapseJ Neurochem20091091596160919457118
- 10GoodchildREDauerWTMislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutationProc Natl Acad Sci U S A200410184785214711988
- 11GoodchildREKimCEDauerWTLoss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelopeNeuron20054892393216364897
- 12HewettJWNeryFCNilandBet alsiRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cellsHum Mol Genet2008171436144518258738
- 13NapolitanoFPasqualettiMUsielloAet alDopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystoniaNeurobiol Dis20103843444520227500
- 14SharmaNBaxterMGPetraviczJet alImpaired motor learning in mice expressing torsinA with the DYT1 dystonia mutationJ Neurosci2005255351535515930383
- 15GrundmannKReischmannBVanhoutteGet alOverexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalitiesNeurobiol Dis20072719020617601741
- 16BraggDCCampSMKaufmanCAet alPerinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectorsNeuroscience200412565166115099679
- 17MisbahuddinAPlaczekMRTaanmanJWet alMutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cellsMov Disord20052043244015593317
- 18NaismithTVHeuserJEBreakefieldXOHansonPITorsinA in the nuclear envelopeProc Natl Acad Sci U S A20041017612761715136718
- 19KustedjoKBraceyMHCravattBFTorsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizationsJ Biol Chem2000275279332793910871631
- 20HewettJGonzalez-AgostiCSlaterDet alMutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cellsHum Mol Genet200091403141310814722
- 21O’FarrellCHernandezDGEveyCSingletonABCooksonMRNormal localization of ΔF323-Y328 mutant torsinA in transfected human cellsNeurosci Lett2002327757812098639
- 22WarnerTTGranataASchiavoGTorsinA and DYT1 dystonia: A synaptopathy?Biochem Soc Trans20103845245620298201
- 23GordonKLGonzalez-AlegrePConsequences of the DYT1 mutation on torsinA oligomerization and degradationNeuroscience200815758859518940237
- 24PageMEBaoLAndrePet alCell-autonomous alteration of dopaminergic transmission by wild type and mutant (ΔE) TorsinA in transgenic miceNeurobiol Dis20103931832620460154
- 25GibsonTJSeilerMVeitiaRAThe transience of transient overexpressionNat Methods20131071572123900254
- 26GilesLMChenJLiLChinLSDystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelopeHum Mol Genet2008172712272218552369
- 27ZhaoYDeCuypereMLeDouxMSAbnormal motor function and dopamine neurotransmission in DYT1 ΔGAG transgenic miceExp Neurol200821071973018299128
- 28TassoneASciamannaGBonsiPMartellaGPisaniAExperimental models of dystoniaInt Rev Neurobiol20119855157221907100
- 29OleasJYokoiFDeandradeMPPisaniALiYEngineering animal models of dystoniaMov Disord201328990100023893455
- 30RichterFRichterAGenetic animal models of dystonia: Common features and diversitiesProg Neurobiol2014in press. doi: http://dx.doi.org/10.1016/j.pneurobio.2014.07.002.
- 31WheelerDGCooperEDepolarization strongly induces human cytomegalovirus major immediate-early promoter/enhancer activity in neuronsJ Biol Chem2001276319783198511397804
- 32MaskriLZhuXFritzenSet alInfluence of different promoters on the expression pattern of mutated human α-synuclein in transgenic miceNeurodegener Dis2004125526516908976
- 33HoffmanGELeWWSitaLVThe importance of titrating antibodies for immunocytochemical methodsCurr Protoc Neurosci2008Chapter 2:Unit 2 12.
- 34XiaoJGongSZhaoYLeDouxMSDevelopmental expression of rat torsinA transcript and proteinBrain Res Dev Brain Res20041524760
- 35Ferrari-ToninelliGPacciorettiSFrancisconiSUbertiDMemoMTorsinA negatively controls neurite outgrowth of SH-SY5Y human neuronal cell lineBrain Res20041012758115158163
- 36KammCBostonHHewettJet alThe early onset dystonia protein torsinA interacts with kinesin light chain 1J Biol Chem2004279198821989214970196
- 37GranataAWatsonRCollinsonLMSchiavoGWarnerTTThe dystonia-associated protein torsinA modulates synaptic vesicle recyclingJ Biol Chem20082837568757918167355
- 38GranataAKooSJHauckeVSchiavoGWarnerTTCSN complex controls the stability of selected synaptic proteins via a torsinA-dependent processEMBO J20113018119321102408
- 39KohJYIwabuchiSHarataNCDystonia-associated protein torsinA is not detectable at the nerve terminals of central neuronsNeuroscience2013253C31632924025868
- 40HewettJWZengJNilandBPBraggDCBreakefieldXODystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamicsNeurobiol Dis2006229811116361107
- 41NeryFCZengJNilandBPet alTorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeletonJ Cell Sci20081213476348618827015
- 42KonakovaMHuynhDPYongWPulstSMCellular distribution of torsin A and torsin B in normal human brainArch Neurol20015892192711405807
- 43WalkerRHGoodPFBrinMFSanduDShashidharanPTorsinA immunoreactivity in normal and DYT1 brain: Light microscopic studies in DYT1 human and electron microscopic studies in non-human primate brainNicholsonLFBFaullRLMThe basal ganglia VIINew YorkKluwer Academic/Plenum Publishers;2002p511520(Advances in behavioral biology; vol. 52).
- 44RostasyKAugoodSJHewettJWet alTorsinA protein and neuropathology in early onset generalized dystonia with GAG deletionNeurobiol Dis200312112412609485
- 45KonakovaMPulstSMImmunocytochemical characterization of torsin proteins in mouse brainBrain Res20019221811730696
- 46AugoodSJKeller-McGandyCESirianiAet alDistribution and ultrastructural localization of torsinA immunoreactivity in the human brainBrain Res2003986122112965225
- 47WalkerRHBrinMFSanduDet alDistribution and immunohistochemical characterization of torsinA immunoreactivity in rat brainBrain Res200190034835411334819
- 48ShashidharanPKramerBCWalkerRHOlanowCWBrinMFImmunohistochemical localization and distribution of torsinA in normal human and rat brainBrain Res200085319720610640617
- 49WalkerRHBrinMFSanduDGoodPFShashidharanPTorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystoniaNeurology20025812012411781416
- 50McNaughtKSKapustinAJacksonTet alBrainstem pathology in DYT1 primary torsion dystoniaAnn Neurol20045654054715455404
- 51AugoodSJPenneyJB
Jr FribergIKet alExpression of the early-onset torsion dystonia gene (DYT1) in human brainAnn Neurol1998436696739585364 - 52ZhaoYXiaoJUedaMet alGlial elements contribute to stress-induced torsinA expression in the CNS and peripheral nervous systemNeuroscience200815543945318538941
- 53SaperCBAn open letter to our readers on the use of antibodiesJ Comp Neurol200549347747816304632
- 54RhodesKJTrimmerJSAntibodies as valuable neuroscience research tools versus reagents of mass distractionJ Neurosci2006268017802016885215
- 55BurryRWControls for immunocytochemistry: An updateJ Histochem Cytochem20115961220852036
- 56EgnerAHellSWAberrations in confocal and multi-photon fluorescence microscopy induced by refractive index mismatchPawleyJBeditor.Handbook of biological confocal microscopyNew YorkSpringer;2006p404413
- 57HarataNIwasakiYEvidence for early blood-brain barrier breakdown in experimental thiamine deficiency in the mouseMetab Brain Dis1995101591747675014
- 58MasudaTKawaguchiJOikawaHet alHow thick are the paraffin-embedded tissue sections routinely prepared in laboratory? A morphometric study using a confocal laser scanning microscopePathol Int1998481791839589485
- 59KonnoHYamamotoTSuzukiHet alTargeting of adoptively transferred experimental allergic encephalitis lesion at the sites of Wallerian degenerationActa Neuropathol1990805215262251909
- 60MichevaKDSmithSJArray tomography: A new tool for imaging the molecular architecture and ultrastructure of neural circuitsNeuron200755253617610815
- 61LiangCCTanabeLMJouSChiFDauerWTTorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegenerationJ Clin Invest20141243080309224937429
- 62YokoiFYangGLiJDeAndradeMPZhouTLiYEarlier onset of motor deficits in mice with double mutations in Dyt1 and SgceJ Biochem201014845946620627944
- 63Gonzalez-AlegrePBodeNDavidsonBLPaulsonHLSilencing primary dystonia: Lentiviral-mediated RNA interference therapy for DYT1 dystoniaJ Neurosci200525105021050916280588
- 64YokoiFDangMTMitsuiSLiJLiYMotor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout miceJ Biochem2008143394717956903
- 65JungwirthMDearMLBrownPHolbrookKGoodchildRRelative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinAHum Mol Genet20101988890020015956
- 66HewettJWKammCBostonHet alTorsinB - perinuclear location and association with torsinAJ Neurochem2004891186119415147511
- 67Gonzalez-AlegrePPaulsonHLAberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystoniaJ Neurosci2004242593260115028751
- 68O’FarrellCAMartinKLHuttonMDelatyckiMBCooksonMRLockhartPJMutant torsinA interacts with tyrosine hydroxylase in cultured cellsNeuroscience20091641127113719761814
- 69ShashidharanPGoodPFHsuAPerlDPBrinMFOlanowCWTorsinA accumulation in Lewy bodies in sporadic Parkinson's diseaseBrain Res200087737938110986355
- 70SiegertSBahnEKramerMLet alTorsinA expression is detectable in human infants as young as 4 weeks oldBrain Res Dev Brain Res20051571926
- 71PuglisiFVanniVPonterioGet alTorsin A localization in the mouse cerebellar synaptic circuitryPLoS One20138e6806323840813
- 72HewettJZieferPBergeronDet alTorsinA in PC12 cells: Localization in the endoplasmic reticulum and response to stressJ Neurosci Res20037215816812671990
- 73GordonKLGlennKAGonzalez-AlegrePExploring the influence of torsinA expression on protein quality controlNeurochem Res20113645245921161590
- 74CaoSHewettJWYokoiFet alChemical enhancement of torsinA function in cell and animal models of torsion dystoniaDis Model Mech2010338639620223934
- 75SciamannaGTassoneAMartellaGet alDevelopmental profile of the aberrant dopamine D2 receptor response in striatal cholinergic interneurons in DYT1 dystoniaPLoS One20116e2426121912682
- 76ArmataIAAnanthanarayananMBalasubramaniyanNShashidharanPRegulation of DYT1 gene expression by the Ets family of transcription factorsJ Neurochem20081061052106518466338
- 77HettichJRyanSDde SouzaONet alBiochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1AHum Mutat20143511011113doi: http://dx.doi.org/10.1002/humu.22602.24930953
- 78BraggDCKaufmanCAKockNBreakefieldXOInhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinAMol Cell Neurosci20042741742615555920
- 79KockNNaismithTVBostonHEet alEffects of genetic variations in the dystonia protein torsinA: Identification of polymorphism at residue 216 as protein modifierHum Mol Genet2006151355136416537570
- 80Vander HeydenABNaismithTVSnappELHodzicDHansonPILULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutationMol Biol Cell2009202661267219339278
- 81NaismithTVDalalSHansonPIInteraction of torsinA with its major binding partners is impaired by the dystonia-associated ΔGAG deletionJ Biol Chem2009284278662787419651773
- 82Vander HeydenABNaismithTVSnappELHansonPIStatic retention of the lumenal monotopic membrane protein torsinA in the endoplasmic reticulumEMBO J2011303217323121785409
- 83ZhuLMillenLMendozaJLThomasPJA unique redox-sensing sensor II motif in TorsinA plays a critical role in nucleotide and partner bindingJ Biol Chem2010285372713728020861018
- 84O’FarrellCLockhartPJLincolnSet alBiochemical characterization of torsinBBrain Res Mol Brain Res20041271915306116
- 85TorresGESweeneyALBeaulieuJMShashidharanPCaronMGEffect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated ΔE-torsinA mutantProc Natl Acad Sci U S A2004101156501565515505207
- 86ZirnBGrundmannKHuppkePet alNovel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)J Neurol Neurosurg Psychiatry2008791327133018477710
- 87KustedjoKDeechongkitSKellyJWCravattBFRecombinant expression, purification, and comparative characterization of torsinA and its torsion dystonia-associated variant ΔE-torsinABiochemistry200342153331534114690443
- 88NeryFCArmataIAFarleyJEet alTorsinA participates in endoplasmic reticulum-associated degradationNat Commun2011239321750546
- 89MaricMShaoJRyanRJWongCSGonzalez-AlegrePRollerRJA functional role for torsinA in herpes simplex virus 1 nuclear egressJ Virol2011859667967921775450
- 90JungwirthMTKumarDJeongDYGoodchildREThe nuclear envelope localization of DYT1 dystonia torsinA-ΔE requires the SUN1 LINC complex componentBMC Cell Biol2011122421627841
- 91GoodchildREDauerWTThe AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER proteinJ Cell Biol200516885586215767459
- 92CalakosNPatelVDGottronMet alFunctional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystoniaJ Med Genet20104764665019955557
- 93HenriksenCMadsenLBBendixenCLarsenKCharacterization of the porcine TOR1A gene: The first step towards generation of a pig model for dystoniaGene200943010511519028553
- 94JosseLSmalesCMTuiteMFTransient expression of human TorsinA enhances secretion of two functionally distinct proteins in cultured Chinese hamster ovary (CHO) cellsBiotechnol Bioeng201010555656619845036
- 95GilesLMLiLChinLSPrintor, a novel torsinA-interacting protein implicated in dystonia pathogenesisJ Biol Chem2009284217652177519535332
- 96VulinovicFLohmannKRakovicAet alUnraveling cellular phenotypes of novel TorsinA/TOR1A mutationsHum Mutat20143511141122doi: http://dx.doi.org/10.1002/humu.22604.24931141
- 97ChengFBFengJCMaLYet alCombined occurrence of a novel TOR1A and a THAP1 mutation in primary dystoniaMov Disord2014291079108324862462
- 98MartinJNBairTBBodeNDauerWTGonzalez-AlegrePTranscriptional and proteomic profiling in a cellular model of DYT1 dystoniaNeuroscience200916456357219665049
- 99KockNAllchorneAJSena-EstevesMWoolfCJBreakefieldXORNAi blocks DYT1 mutant torsinA inclusions in neuronsNeurosci Lett200639520120516332410
- 100ShashidharanPSanduDPotlaUet alTransgenic mouse model of early-onset DYT1 dystoniaHum Mol Genet20051412513315548549
- 101RegensburgerMKohlZGrundmannKWinnerBRiessOWinklerJAdult neural precursor cells unaffected in animal models of DYT1 dystoniaNeuroreport2009201529153319829161
- 102MartellaGTassoneASciamannaGet alImpairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: Role of endogenous acetylcholineBrain20091322336234919641103
- 103GrundmannKGlockleNMartellaGet alGeneration of a novel rodent model for DYT1 dystoniaNeurobiol Dis201247617422472189
- 104McLeanPJKawamataHShariffSet alTorsinA and heat shock proteins act as molecular chaperones: suppression of α-synuclein aggregationJ Neurochem20028384685412421356
- 105KimCEPerezAPerkinsGEllismanMHDauerWTA molecular mechanism underlying the neural-specific defect in torsinA mutant miceProc Natl Acad Sci U S A20101079861986620457914
- 106SharmaNHewettJOzeliusLJet alA close association of torsinA and α-synuclein in Lewy bodies: A fluorescence resonance energy transfer studyAm J Pathol200115933934411438481
- 107WalkerRHRasmussenARudnickiDet alHuntington's disease-like 2 can present as chorea-acanthocytosisNeurology2003611002100414557581
- 108WalkerRHMorgelloSDavidoff-FeldmanBet alAutosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusionsNeurology2002581031103711940688
- 109WalkerRHGoodPFShashidharanPTorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseasesMov Disord2003181041104414502672
- 110HoltonJLSchneiderSAGanesharajahTet alNeuropathology of primary adult-onset dystoniaNeurology20087069569918299520
- 111DangMTYokoiFMcNaughtKSet alGeneration and characterization of Dyt1 ΔGAG knock-in mouse as a model for early-onset dystoniaExp Neurol200519645246316242683
- 112OberlinSRKonakovaMPulstSChesseletMFDevelopment and anatomic localization of torsinAAdv Neurol200494616514509655
- 113YamadaKGotoSKajiRKuratsuJModulation of torsinA expression in the globus pallidus internus is associated with levodopa-induced dyskinesia in hemiparkinsonian ratsNeurosci Lett2006396626616325337