2015
Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutation
Estacion M, Vohra BP, Liu S, Hoeijmakers J, Faber CG, Merkies IS, Lauria G, Black JA, Waxman SG. Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutation. Journal Of Neurophysiology 2015, 114: 1554-1564. PMID: 26156380, PMCID: PMC4561630, DOI: 10.1152/jn.00195.2015.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathyDRG neuronsNav1.7 mutationCell bodiesDorsal root ganglion neuronsDRG cell bodiesModes of NCXIntraepidermal nerve fibersVoltage-gated sodium channel Nav1.7Sodium/calcium exchangerDegeneration of neuritesSodium channel Nav1.7Levels of intracellularTreatment of WTAxonal degenerationGanglion neuronsFunction missense mutationsNerve fibersAxon degenerationChannel Nav1.7Reverse NCXCalcium exchangerNav1.7DegenerationNeurons
2012
Neuropathy‐associated NaV1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons
Persson A, Liu S, Faber CG, Merkies IS, Black JA, Waxman SG. Neuropathy‐associated NaV1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons. Annals Of Neurology 2012, 73: 140-145. PMID: 23280954, DOI: 10.1002/ana.23725.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathyIntraepidermal nerve fibersIdiopathic small fiber neuropathyNa-Ca exchangeDRG neuronsNeurite lengthSensory axonsLoss of IENFsReverse Na-Ca exchangeDorsal root ganglion neuronsPeripheral sensory axonsPeripheral nerve axonsSodium channel blockers carbamazepineSodium channel activityAxonal degenerationGanglion neuronsSpontaneous firingNerve fibersAxonal integrityNeuron axonsImpaired regenerationNerve axonsFunction variantsAxonsSodium channels