2023
Kv7-specific activators hyperpolarize resting membrane potential and modulate human iPSC-derived sensory neuron excitability
Estacion M, Liu S, Cheng X, Dib-Hajj S, Waxman S. Kv7-specific activators hyperpolarize resting membrane potential and modulate human iPSC-derived sensory neuron excitability. Frontiers In Pharmacology 2023, 14: 1138556. PMID: 36923357, PMCID: PMC10008904, DOI: 10.3389/fphar.2023.1138556.Peer-Reviewed Original ResearchA novel high throughput combined voltage-clamp/current-clamp analysis of single primary neurons
Ghovanloo M, Tyagi S, Zhao P, Kiziltug E, Estacion M, Dib-Hajj S, Waxman S. A novel high throughput combined voltage-clamp/current-clamp analysis of single primary neurons. Biophysical Journal 2023, 122: 101a. DOI: 10.1016/j.bpj.2022.11.734.Peer-Reviewed Original ResearchHigh-throughput combined voltage-clamp/current-clamp analysis of freshly isolated neurons
Ghovanloo M, Tyagi S, Zhao P, Kiziltug E, Estacion M, Dib-Hajj S, Waxman S. High-throughput combined voltage-clamp/current-clamp analysis of freshly isolated neurons. Cell Reports Methods 2023, 3: 100385. PMID: 36814833, PMCID: PMC9939380, DOI: 10.1016/j.crmeth.2022.100385.Peer-Reviewed Original ResearchConceptsDorsal root ganglion neuronsCurrent-clamp recordingsCurrent-clamp analysisVoltage-gated sodium channelsPatch-clamp techniqueExcitable cellsGanglion neuronsElectrophysiological recordingsNeuronal cellsNeuronsGold standard methodologySodium channelsCellular levelRobotic instrumentsCellsDrug screeningSame cellsIntact tissueRecordings
2020
A 49-residue sequence motif in the C terminus of Nav1.9 regulates trafficking of the channel to the plasma membrane
Sizova D, Huang J, Akin E, Estacion M, Gomis-Perez C, Waxman S, Dib-Hajj S. A 49-residue sequence motif in the C terminus of Nav1.9 regulates trafficking of the channel to the plasma membrane. Journal Of Biological Chemistry 2020, 295: 1077-1090. DOI: 10.1016/s0021-9258(17)49917-0.Peer-Reviewed Original ResearchPlasma membraneC-terminusHEK293 cellsHigh-resolution live microscopyC-terminal motifHeterologous expression systemC-terminal chimerasHigh-throughput assaysSequence motifsCytoplasmic faceHeterologous systemsVoltage-gated sodium channel Nav1.9Live microscopyRecombinant expressionExpression systemLong motifsMechanistic basisFunctional expressionFunctional studiesTerminusLow functional expressionMotifChannel chimeraExpression levelsChimeras
2018
Gain of Function NaV1.7 Mutations in Idiopathic Small Fiber Neuropathy
Faber C, Hoeijmakers J, Ahn H, Cheng X, Han C, Choi J, Estacion M, Lauria G, Vanhoutte E, Gerrits M, Dib-Hajj S, Drenth J, Waxman S, Merkies I. Gain of Function NaV1.7 Mutations in Idiopathic Small Fiber Neuropathy. 2018, 175-194. DOI: 10.7551/mitpress/10310.003.0022.Peer-Reviewed Original ResearchStructural Modelling and Mutant Cycle Analysis Predict Pharmacoresponsiveness of a NaV1.7 Mutant Channel
Yang Y, Dib-Hajj S, Zhang J, Zhang Y, Tyrrell L, Estacion M, Waxman S. Structural Modelling and Mutant Cycle Analysis Predict Pharmacoresponsiveness of a NaV1.7 Mutant Channel. 2018, 251-270. DOI: 10.7551/mitpress/10310.003.0029.Peer-Reviewed Original ResearchPharmacotherapy for Pain in a Family with Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling
Geha P, Yang Y, Estacion M, Schulman B, Tokuno H, Apkarian A, Dib-Hajj S, Waxman S. Pharmacotherapy for Pain in a Family with Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling. 2018, 275-288. DOI: 10.7551/mitpress/10310.003.0031.Peer-Reviewed Original Research
2016
Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling
Geha P, Yang Y, Estacion M, Schulman BR, Tokuno H, Apkarian AV, Dib-Hajj SD, Waxman SG. Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling. JAMA Neurology 2016, 73: 659. PMID: 27088781, DOI: 10.1001/jamaneurol.2016.0389.Peer-Reviewed Original ResearchMeSH KeywordsAction PotentialsAdultAnalgesics, Non-NarcoticBrainCarbamazepineChronic PainDNA Mutational AnalysisDouble-Blind MethodElectric StimulationErythromelalgiaFemaleGanglia, SpinalHumansMagnetic Resonance ImagingMaleMutationNAV1.7 Voltage-Gated Sodium ChannelPain MeasurementRegression AnalysisSensory Receptor CellsConceptsMean episode durationDRG neuronsPatient 1Nav1.7 mutationEpisode durationDorsal root ganglion neuronsPlacebo-controlled studyMaintenance periodAttenuation of painEffects of carbamazepineBrain activityFunctional magnetic resonance imagingMagnetic resonance imagingT mutationMutant channelsFunctional magnetic resonanceNeuropathic painSecondary somatosensoryChronic painPain areaPatient 2Ganglion neuronsEffective pharmacotherapyNight awakeningsPlacebo
2010
Can robots patch‐clamp as well as humans? Characterization of a novel sodium channel mutation
Estacion M, Choi JS, Eastman EM, Lin Z, Li Y, Tyrrell L, Yang Y, Dib‐Hajj S, Waxman SG. Can robots patch‐clamp as well as humans? Characterization of a novel sodium channel mutation. The Journal Of Physiology 2010, 588: 1915-1927. PMID: 20123784, PMCID: PMC2901980, DOI: 10.1113/jphysiol.2009.186114.Peer-Reviewed Original Research
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