2021
A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation
Zhang Y, Ali SR, Nabbout R, Barcia G, Kaczmarek LK. A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation. Journal Of Neurophysiology 2021, 126: 532-539. PMID: 34232791, PMCID: PMC8409950, DOI: 10.1152/jn.00257.2021.Peer-Reviewed Original ResearchConceptsFunctional channelsProtein kinase C.Serious human diseasesPotassium channelsWild-type channelsEpilepsy of infancyChannel modulationTerminal domainIon channel mutationsPKC phosphorylationC-terminusNormal neuronal functionChannel proteinsKv3.1 potassium channelRegulatory sitesKinase C.Human diseasesChannel functionPhosphorylationIon channelsMutationsNovo variantsChannel mutationsBiophysical propertiesNeuronal function
2015
Diversity in the Structure and Function of Ion Channels
Levitan I, Kaczmarek L. Diversity in the Structure and Function of Ion Channels. 2015, 127-150. DOI: 10.1093/med/9780199773893.003.0007.ChaptersIon channelsPotassium channelsFormation of heterotetramersAlternative splicingIndividual genesMultiple genesAuxiliary subunitsTwo-poreDiverse familyHuman diseasesMolecular biologyMessenger RNASubunitsDiversityGenesRectifier channelsVoltage-dependent sodiumChannel propertiesPatch-clamp techniqueSplicingDifferent mechanismsHeterotetramerClamp techniqueElectrophysiological measurementsRNA
2014
More Than a Pore: Ion Channel Signaling Complexes
Lee A, Fakler B, Kaczmarek LK, Isom LL. More Than a Pore: Ion Channel Signaling Complexes. Journal Of Neuroscience 2014, 34: 15159-15169. PMID: 25392484, PMCID: PMC4228125, DOI: 10.1523/jneurosci.3275-14.2014.Peer-Reviewed Original ResearchConceptsIon channelsHeterologous expression systemIon channel complexSignaling ComplexFunctional dissectionHuman genomeMolecular basisExpression systemSecond messengerHuman diseasesChannel complexCellular excitabilityProteinNew insightsSuch interactionsInteractomeGenomeUnexpected propertiesComplexesMessengerPathwayInteractionDysregulationLocalizationVivo