2009
The ataxia3 Mutation in the N-Terminal Cytoplasmic Domain of Sodium Channel Nav1.6 Disrupts Intracellular Trafficking
Sharkey LM, Cheng X, Drews V, Buchner DA, Jones JM, Justice MJ, Waxman SG, Dib-Hajj SD, Meisler MH. The ataxia3 Mutation in the N-Terminal Cytoplasmic Domain of Sodium Channel Nav1.6 Disrupts Intracellular Trafficking. Journal Of Neuroscience 2009, 29: 2733-2741. PMID: 19261867, PMCID: PMC2679640, DOI: 10.1523/jneurosci.6026-08.2009.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBlotting, WesternCell LineChromosome MappingCytoplasmData Interpretation, StatisticalDNA, ComplementaryElectrophysiologyEthylnitrosoureaImmunohistochemistryMachado-Joseph DiseaseMiceMice, Inbred C57BLMutagensMutationMutation, MissenseNAV1.6 Voltage-Gated Sodium ChannelNerve Tissue ProteinsPatch-Clamp TechniquesSciatic NerveSodium ChannelsSubcellular FractionsTransfectionConceptsMutant channelsCytoplasmic N-terminal regionN-terminal cytoplasmic domainCytoplasmic N-terminal domainMouse chromosome 15N-terminal domainN-terminal regionAmino acid substitution p.Primary cerebellar granule cellsVoltage-dependent inward sodium currentMutant proteinsCytoplasmic domainJuvenile lethalityCis-GolgiTrafficking defectsPlasma membraneSodium channelsIntracellular traffickingProtein abundanceWild typeN-terminusGolgi complexMutant transcriptsChromosome 15Whole-cell patch-clamp studies
1996
Orphan nuclear receptor RORα gene: isoform-specific spatiotemporal expression during postnatal development of brain
Sashihara S, Felts P, Waxman S, Matsui T. Orphan nuclear receptor RORα gene: isoform-specific spatiotemporal expression during postnatal development of brain. Brain Research 1996, 42: 109-117. PMID: 8915586, DOI: 10.1016/s0169-328x(96)00118-0.Peer-Reviewed Original ResearchConceptsROR alphaAlpha cDNAOrphan nuclear receptor ROR alphaSpatiotemporal expressionN-terminal regionIsoform-specific regulationAlpha expressionSpecific transcriptsCell typesHybridization signalsPurkinje cellsCDNAExpressionPostnatal developmentRelative levelsRegulationCellsAlphaPostnatal maturationTranscriptsOlfactory bulbRodent brainIsoformsBrain regionsMaturation