2012
Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Nav1.7 mutant channel
Yang Y, Dib-Hajj SD, Zhang J, Zhang Y, Tyrrell L, Estacion M, Waxman SG. Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Nav1.7 mutant channel. Nature Communications 2012, 3: 1186. PMID: 23149731, PMCID: PMC3530897, DOI: 10.1038/ncomms2184.Peer-Reviewed Original Research
2001
Flanking regulatory sequences of the locus encoding the murine GDNF receptor, c‐ret, directs lac Z (β‐galactosidase) expression in developing somatosensory system
Sukumaran M, Waxman S, Wood J, Pachnis V. Flanking regulatory sequences of the locus encoding the murine GDNF receptor, c‐ret, directs lac Z (β‐galactosidase) expression in developing somatosensory system. Developmental Dynamics 2001, 222: 389-402. PMID: 11747074, DOI: 10.1002/dvdy.1192.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, NewbornBase SequenceChromosome MappingCloning, MolecularConsensus SequenceDrosophila ProteinsEmbryo, MammalianGanglia, SensoryGene ExpressionGene Expression Regulation, DevelopmentalGenes, RegulatorGlial Cell Line-Derived Neurotrophic Factor ReceptorsLac OperonLectinsMiceMice, TransgenicNeurons, AfferentNociceptorsPromoter Regions, GeneticProtein Structure, TertiaryProto-Oncogene ProteinsProto-Oncogene Proteins c-retReceptor Protein-Tyrosine KinasesSpinal CordTranscription Initiation SiteConceptsRegulatory domainLac Z expressionZ expressionCell type-specific expressionDistal regulatory domainEndogenous gene expressionCis-regulatory domainsTranscription initiation siteEntire structural geneSpecific regulatory domainsLac Z reporter geneStructural geneMouse genomeLateral mesodermRegulatory sequencesCpG islandsDNA sequencesPrimitive streakReporter geneFlanking sequencesCosmid contigGene expressionSpecific expressionTransgenic mouse lineInitiation siteFibroblast Growth Factor Homologous Factor 1B Binds to the C Terminus of the Tetrodotoxin-resistant Sodium Channel rNav1.9a (NaN)*
Liu C, Dib-Hajj S, Waxman S. Fibroblast Growth Factor Homologous Factor 1B Binds to the C Terminus of the Tetrodotoxin-resistant Sodium Channel rNav1.9a (NaN)*. Journal Of Biological Chemistry 2001, 276: 18925-18933. PMID: 11376006, DOI: 10.1074/jbc.m101606200.Peer-Reviewed Original ResearchMeSH Keywords3T3 CellsAmino Acid SequenceAnimalsBlotting, WesternCell LineConserved SequenceCytoplasmDNA, ComplementaryDrug ResistanceFibroblast Growth FactorsGene LibraryGlutathione TransferaseGrowth SubstancesHumansMiceModels, BiologicalMolecular Sequence DataNAV1.9 Voltage-Gated Sodium ChannelNeuropeptidesPlasmidsProtein BindingProtein Structure, TertiaryRatsReverse Transcriptase Polymerase Chain ReactionRNASequence Analysis, DNASequence Homology, Amino AcidSodium ChannelsTetrodotoxinTissue DistributionTwo-Hybrid System TechniquesConceptsC-terminusTerminal polypeptideTwo-hybrid screenMammalian cell linesC-terminal regionN-terminal 5Fibroblast growth factor family membersFibroblast growth factor (FGF) familySodium channelsAmino acid residuesFactor family membersGrowth factor family membersCytoplasmic domainFirst growth factorGrowth factor familyFactor familyIntracellular segmentAcid residuesCell membraneFunctional significanceChannel complexDirect interactionCell linesTerminusPolypeptide
1999
Activation and Inactivation of the Voltage-Gated Sodium Channel: Role of Segment S5 Revealed by a Novel Hyperkalaemic Periodic Paralysis Mutation
Bendahhou S, Cummins T, Tawil R, Waxman S, Ptácek L. Activation and Inactivation of the Voltage-Gated Sodium Channel: Role of Segment S5 Revealed by a Novel Hyperkalaemic Periodic Paralysis Mutation. Journal Of Neuroscience 1999, 19: 4762-4771. PMID: 10366610, PMCID: PMC6782655, DOI: 10.1523/jneurosci.19-12-04762.1999.Peer-Reviewed Original ResearchMeSH KeywordsCells, CulturedDNA Mutational AnalysisDNA PrimersGene ExpressionHumansHyperkalemiaIon Channel GatingKidneyKineticsMaleMiddle AgedMolecular Sequence DataNAV1.4 Voltage-Gated Sodium ChannelParalyses, Familial PeriodicPatch-Clamp TechniquesPoint MutationProtein Structure, TertiarySequence Homology, Amino AcidSodium ChannelsTransfectionConceptsSegments S5Point mutationsS5 segmentVoltage-Gated Sodium ChannelSodium channelsTransmembrane segments S5Cytoplasmic interfaceWild-type channelsParalysis phenotypeHomologous domainsVoltage-sensitive sodium channelsPotassium-aggravated myotoniaNew point mutationPhenylalanine substitutionSkeletal muscle disordersHyperkalaemic periodic paralysisFast inactivationSecond domainMutationsGenesChannel deactivationInactivationChannel activationSlow inactivationT704M mutation