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
2006
Mutations in the sodium channel Nav1.7 underlie inherited erythromelalgia
Dib-Hajj S, Rush A, Cummins T, Waxman S. Mutations in the sodium channel Nav1.7 underlie inherited erythromelalgia. Drug Discovery Today Disease Mechanisms 2006, 3: 343-350. DOI: 10.1016/j.ddmec.2006.09.005.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsSympathetic ganglion neuronsDorsal root gangliaHigh-frequency firingSingle action potentialSodium channel Nav1.7Mild thermal stimuliSevere painDRG neuronsPainful conditionsGanglion neuronsRoot gangliaChannel Nav1.7Action potentialsModel diseaseThermal stimuliErythromelalgiaNeuronsMutant channelsFunctional studiesIEMPainGangliaNav1.7MutationsDisease