1999
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans
Bendahhou S, Cummins T, Kwiecinski H, Waxman S, Ptácek L. Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans. The Journal Of Physiology 1999, 518: 337-344. PMID: 10381583, PMCID: PMC2269438, DOI: 10.1111/j.1469-7793.1999.0337p.x.Peer-Reviewed Original ResearchConceptsChannel functionMutant channelsHuman embryonic kidney 293 cellsEmbryonic kidney 293 cellsSodium channel alpha subunitAmino acid changesSingle nucleotide substitutionKidney 293 cellsChannel alpha subunitSkeletal muscle voltage-gated sodium channelPosition 1448Sodium channel mutationsParamyotonia congenitaVoltage-gated sodium channelsSodium channel functionNucleotide substitutionsAlpha subunitSingle-strand conformation polymorphism analysisSegment S4Skeletal muscle disordersDomain IVAcid changesNew genetic mutationsDNA sequencingFast inactivation
1998
Novel splice variants of the voltage-sensitive sodium channel alpha subunit
Oh Y, Waxman S. Novel splice variants of the voltage-sensitive sodium channel alpha subunit. Neuroreport 1998, 9: 1267-1272. PMID: 9631410, DOI: 10.1097/00001756-199805110-00002.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingAmino Acid SequenceAnimalsAnimals, NewbornAstrocytesAstrocytomaBrainBucladesineCalcimycinCells, CulturedGenetic VariationMacromolecular SubstancesModels, MolecularMolecular Sequence DataPolymerase Chain ReactionProtein ConformationRatsRats, Sprague-DawleySodium ChannelsSpinal CordUp-RegulationConceptsChannel alpha subunitNeuroblastoma cellsSpinal cord astrocytesB104 neuroblastoma cellsCultured rat astrocytesChannel mRNA expressionNovel splice variantSplice variantsSodium channel alpha subunitAlpha-subunit mRNASpinal cordCerebral astrocytesUnique regulatory pathwaysAlpha subunitRat astrocytesAstrocytesMRNA expressionSubunit mRNAsMicroM A23187Dibutyryl cAMPPremature truncationCellsExpressionRegulatory pathwaysCord
1997
Regulation of Na+ channel β1 and β2 subunit mRNA levels in cultured rat astrocytes
Oh Y, Lee Y, Waxman S. Regulation of Na+ channel β1 and β2 subunit mRNA levels in cultured rat astrocytes. Neuroscience Letters 1997, 234: 107-110. PMID: 9364509, DOI: 10.1016/s0304-3940(97)00694-0.Peer-Reviewed Original ResearchConceptsReverse transcription-polymerase chain reactionMRNA levelsSpinal cordCompetitive reverse transcription-polymerase chain reactionQuantitative competitive reverse transcription-polymerase chain reactionSpinal cord astrocytesRat optic nerveDibutyryl cAMPBeta 2 mRNACultured rat astrocytesTranscription-polymerase chain reactionBeta 1 mRNASubunit mRNA levelsNeuroblastoma cell linesOptic nerveChannel β1Cultured astrocytesRat astrocytesCalcium ionophoreAstrocytesBeta 1Chain reactionCell linesCordMRNATTX-Sensitive and -Resistant Na+ Currents, and mRNA for the TTX-Resistant rH1 Channel, Are Expressed in B104 Neuroblastoma Cells
Gu X, Dib-Hajj S, Rizzo M, Waxman S. TTX-Sensitive and -Resistant Na+ Currents, and mRNA for the TTX-Resistant rH1 Channel, Are Expressed in B104 Neuroblastoma Cells. Journal Of Neurophysiology 1997, 77: 236-246. PMID: 9120565, DOI: 10.1152/jn.1997.77.1.236.Peer-Reviewed Original ResearchConceptsB104 neuroblastoma cellsTTX-resistant channelsB104 cellsNeuroblastoma cellsWhole-cell patch-clamp methodAbsence of TTXTTX-resistant currentTTX-sensitive currentsPresence of TTXPA/pFTranscription-polymerase chain reactionLong QT syndromeCell linesSteady-state inactivationNeuroblastoma cell linesAlpha-subunit mRNAPatch-clamp methodTTX-sensitiveHalf-maximal inhibitionInactivation time constantsChannel mRNATTXMembrane excitabilitySubunit mRNAsRT-PCR
1994
The expression of rat brain voltage-sensitive Na+ channel mRNAs in astrocytes
Oh Y, Black J, Waxman S. The expression of rat brain voltage-sensitive Na+ channel mRNAs in astrocytes. Brain Research 1994, 23: 57-65. PMID: 8028484, DOI: 10.1016/0169-328x(94)90211-9.Peer-Reviewed Original ResearchConceptsRat brainChannel mRNAChannel subtypesCultured spinal cordSkeletal muscleRat optic nerveNeuronal cell bodiesRegions of CNSSubtype IRat skeletal muscleOptic nervePolymerase chain reactionSpinal cordRat astrocytesDistinct subtypesAstrocytesCell bodiesSubtypesBrainRT-PCRSubtype IIRat tissuesChain reactionRat liverReverse transcription