2020
Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy
Labau J, Estacion M, Tanaka BS, de Greef B, Hoeijmakers J, Geerts M, Gerrits MM, Smeets H, Faber CG, Merkies I, Lauria G, Dib-Hajj SD, Waxman SG. Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy. Brain 2020, 143: 771-782. PMID: 32011655, PMCID: PMC7089662, DOI: 10.1093/brain/awaa016.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathyEffects of lacosamideNon-responsive patientsSubset of patientsCommon pain disordersRecent clinical studiesUse-dependent inhibitionUse-dependent mannerVoltage-clamp recordingsPotent sodium channel inhibitorSlow inactivationSodium channel inhibitorsNeuronal hyperexcitabilityResponsive patientsPain disordersNav1.7 mutationClinical studiesAchievable concentrationsPatientsLacosamideNeuropathyChannel inhibitorsSodium channelsPainFunction mutations
2016
Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli
Yang Y, Huang J, Mis MA, Estacion M, Macala L, Shah P, Schulman BR, Horton DB, Dib-Hajj SD, Waxman SG. Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli. Journal Of Neuroscience 2016, 36: 7511-7522. PMID: 27413160, PMCID: PMC6705539, DOI: 10.1523/jneurosci.0462-16.2016.Peer-Reviewed Original ResearchConceptsRat DRG neuronsDorsal root ganglion neuronsDRG neuronsCurrent-clamp recordingsSodium channel Nav1.7Pain syndromeNav1.7 mutationGanglion neuronsThermal stimuliIEM patientsChannel Nav1.7Whole-cell current-clamp recordingsNav1.7 channelsFunction Nav1.7 mutationsSevere pain syndromeVoltage-gated sodium channel Nav1.7Voltage-clamp recordingsMutant Nav1.7 channelsMean firing frequencyMultielectrode array recordingsMutant channelsG mutationMultigeneration familySpontaneous firingSympathetic neurons
2008
NaV1.7 Gain-of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated with Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders
Estacion M, Dib-Hajj SD, Benke PJ, Morsche R, Eastman EM, Macala LJ, Drenth JP, Waxman SG. NaV1.7 Gain-of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated with Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders. Journal Of Neuroscience 2008, 28: 11079-11088. PMID: 18945915, PMCID: PMC6671384, DOI: 10.1523/jneurosci.3443-08.2008.Peer-Reviewed Original ResearchMeSH KeywordsAlanineAnimalsAnimals, NewbornCells, CulturedChildDose-Response Relationship, RadiationElectric StimulationErythromelalgiaGanglia, SpinalGlutamic AcidHumansMaleMembrane PotentialsModels, MolecularMutationNAV1.7 Voltage-Gated Sodium ChannelNeuronsPatch-Clamp TechniquesRatsRats, Sprague-DawleySodium ChannelsSomatoform DisordersTime FactorsTransfectionConceptsParoxysmal extreme pain disorderDorsal root gangliaTrigeminal ganglion neuronsClinical phenotypeGanglion neuronsMixed clinical phenotypePersistent inward currentsFunction mutationsPatch-clamp analysisPEPD mutationsPain disordersFast inactivationRoot gangliaInward currentsDistinct disordersCurrent clampErythromelalgiaDisordersPainChannel functionVoltage dependencePhysiological changesNeuronsIEMPhenotype
2004
Activation of Human TRPC6 Channels by Receptor Stimulation*
Estacion M, Li S, Sinkins W, Gosling M, Bahra P, Poll C, Westwick J, Schilling W. Activation of Human TRPC6 Channels by Receptor Stimulation*. Journal Of Biological Chemistry 2004, 279: 22047-22056. PMID: 15023993, DOI: 10.1074/jbc.m402320200.Peer-Reviewed Original ResearchMeSH KeywordsCalcium ChannelsCarbacholCell LineCell MembraneCholinergic AgonistsDNA, ComplementaryDose-Response Relationship, DrugElectrophysiologyEnzyme InhibitorsHumansIonomycinIonophoresKineticsLac OperonMembrane PotentialsProtein BindingTetradecanoylphorbol AcetateThapsigarginTime FactorsTransfectionTRPC Cation ChannelsTRPC6 Cation ChannelConceptsReceptor stimulationTRPC6 currentsTRPC6 channelsSteep dose-response relationshipEffect of carbacholConcentrations of carbacholSteep concentration-response relationshipReceptor-mediated eventsActivation of TRPC6Channel activityDose-response relationshipWhole-cell membrane currentsSignificant acute effectConcentration-response relationshipCell membrane currentsAcute effectsCarbacholGeneration of DAGHuman embryonic kidney cellsPrior stimulationPatch pipetteTRPC6 activityEmbryonic kidney cellsMembrane currentsMembrane depolarization
2001
Regulation of Drosophila transient receptor potential‐like (TrpL) channels by phospholipase C‐dependent mechanisms
Estacion M, Sinkins W, Schilling W. Regulation of Drosophila transient receptor potential‐like (TrpL) channels by phospholipase C‐dependent mechanisms. The Journal Of Physiology 2001, 530: 1-19. PMID: 11136854, PMCID: PMC2278390, DOI: 10.1111/j.1469-7793.2001.0001m.x.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBaculoviridaeCalciumCalmodulin-Binding ProteinsCell LineCHO CellsCricetinaeDrosophilaDrosophila ProteinsFluorescent DyesFura-2Indicators and ReagentsMembrane PotentialsMembrane ProteinsOocytesPatch-Clamp TechniquesPhosphatidylinositol 4,5-DiphosphateSpodopteraTransient Receptor Potential ChannelsType C PhospholipasesXenopusConceptsPhospholipase CPhospholipase DDrosophila TRPL channelsTRPL channel activitySf9 insect cellsBacterial PI-PLCsPLC-dependent mechanismChannel activityFura-2 assayReceptor stimulationHydrolysis of PIP2Generation of diacylglycerolPoly-unsaturated fatty acidsTRPL channelsReceptor-mediated activationAddition of phosphatidylinositolInsect cellsExogenous applicationPI-PLCTransient receptor potential-like channelPC-PLCPIP2Spontaneous channel activityTRPLDiacylglycerol
1993
Ca2+ influx via T-type channels modulates PDGF-induced replication of mouse fibroblasts
Wang Z, Estacion M, Mordan L. Ca2+ influx via T-type channels modulates PDGF-induced replication of mouse fibroblasts. American Journal Of Physiology 1993, 265: c1239-c1246. PMID: 8238477, DOI: 10.1152/ajpcell.1993.265.5.c1239.Peer-Reviewed Original ResearchConceptsVoltage-gated calcium channelsExtracellular calcium influxCalcium influxNordihydroguariaretic acidCalcium currentWhole-cell patch-clamp techniqueCell patch-clamp techniqueIntracellular calcium increaseInward calcium currentCell proliferationIntracellular calcium concentrationT-type channelsAddition of prostaglandinPlatelet-derived growth factorMean inhibitory dosePatch-clamp techniqueC3H/10T1/2 mouse fibroblastsInhibitory doseCalcium channelsCalcium increaseSustained increaseGrowth factorInhibitory effectCalcium concentrationCell cycle progressionExpression of voltage-gated calcium channels correlates with PDGF-stimulated calcium influx and depends upon cell density in C3H 10T12 mouse fibroblasts
Estacion M, Mordan L. Expression of voltage-gated calcium channels correlates with PDGF-stimulated calcium influx and depends upon cell density in C3H 10T12 mouse fibroblasts. Cell Calcium 1993, 14: 161-171. PMID: 8384532, DOI: 10.1016/0143-4160(93)90085-k.Peer-Reviewed Original ResearchConceptsVoltage-gated calcium channelsCalcium channelsT-type voltage-gated calcium channelsWhole-cell patch-clamp recordingsWhole-cell patch-clamp techniqueCell patch-clamp techniquePatch-clamp recordingsPatch-clamp techniqueMembrane calcium channelsIntracellular calcium signalsPlasma membrane calcium channelsC3H 10T1/2 mouse fibroblastsCalcium currentCalcium influxFura-2Extracellular calciumCalcium poolSustained influxGrowth factorInflux componentFraction of cellsCalcium signalsCell densityMouse fibroblastsConfluent monolayers
1990
Inhibition of voltage-dependent Na+ current in cell-fusion hybrids containing activated c-Ha-ras
Estacion M. Inhibition of voltage-dependent Na+ current in cell-fusion hybrids containing activated c-Ha-ras. The Journal Of Membrane Biology 1990, 113: 169-175. PMID: 2157017, DOI: 10.1007/bf01872890.Peer-Reviewed Original Research