1993
Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis
Cummins T, Zhou J, Sigworth F, Ukomadu C, Stephan M, Ptáčk L, Agnew W. Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis. Neuron 1993, 10: 667-678. PMID: 8386527, DOI: 10.1016/0896-6273(93)90168-q.Peer-Reviewed Original ResearchConceptsHyperkalemic periodic paralysisFifth transmembrane segmentHuman embryonic kidney 293 cellsSingle base pair substitutionsEmbryonic kidney 293 cellsKidney 293 cellsBase pair substitutionsTransmembrane segmentsHuman mutationsChannel cDNARat channelHuman skeletal muscleFunctional consequencesPair substitutionsSecond domainCorresponding regionChannel mutationsGenetic defectsMutationsSkeletal musclePeriodic paralysisPatch-clamp recordingsCDNARat musclePedigree
1989
Primary structure and functional expression of a mammalian skeletal muscle sodium channel
Trimmer J, Cooperman S, Tomiko S, Zhou J, Crean S, Boyle M, Kalen R, Sheng Z, Barchi R, Sigworth F, Goodman R, Agnew W, Mandel G. Primary structure and functional expression of a mammalian skeletal muscle sodium channel. Neuron 1989, 3: 33-49. PMID: 2559760, DOI: 10.1016/0896-6273(89)90113-x.Peer-Reviewed Original ResearchConceptsAlpha subunitHomologous domains IAmino acid segmentSodium channelsSkeletal muscle sodium channelsNorthern blot analysisSkeletal muscleMuscle sodium channelsVoltage-sensitive sodium channelsPrimary structureFunctional expressionDomain IAcid segmentNative channelsSynthetic RNAXenopus oocytesRat muscle fibersBlot analysisRat skeletal muscleEel electroplaxRat brainSubunitsMuscle fibersMuscleCDNA