2017
COL6A5 variants in familial neuropathic chronic itch
Martinelli-Boneschi F, Colombi M, Castori M, Devigili G, Eleopra R, Malik RA, Ritelli M, Zoppi N, Dordoni C, Sorosina M, Grammatico P, Fadavi H, Gerrits MM, Almomani R, Faber CG, Merkies IS, Toniolo D, Network F, Cocca M, Doglioni C, Waxman S, Dib-Hajj S, Taiana M, Sassone J, Lombardi R, Cazzato D, Zauli A, Santoro S, Marchi M, Lauria G. COL6A5 variants in familial neuropathic chronic itch. Brain 2017, 140: 555-567. PMID: 28073787, DOI: 10.1093/brain/aww343.Peer-Reviewed Original ResearchConceptsChronic itchSmall fiber neuropathyJHS/EDS-HT patientsJoint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility typeNew candidate therapeutic targetsIntraepidermal nerve fiber densityEhlers-Danlos syndrome hypermobility typeEDS-HT patientsNonsense variantNerve fiber densitySkin of patientsCandidate therapeutic targetUnrelated sporadic patientsWhole-exome sequencingItch reliefNeuropathic itchDiabetic patientsHypermobility typeSomatosensory pathwaysHealthy controlsSkin biopsiesSide effectsTherapeutic targetPatientsSporadic patients
2012
Genetic aspects of sodium channelopathy in small fiber neuropathy
Hoeijmakers J, Merkies I, Gerrits M, Waxman S, Faber C. Genetic aspects of sodium channelopathy in small fiber neuropathy. Clinical Genetics 2012, 82: 351-358. PMID: 22803682, DOI: 10.1111/j.1399-0004.2012.01937.x.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsChannelopathiesGenetic VariationHumansNAV1.7 Voltage-Gated Sodium ChannelNerve Fibers, UnmyelinatedPolyneuropathiesConceptsSmall fiber neuropathyEtiology of SFNSmall-diameter peripheral axonsIntraepidermal nerve fiber densityDorsal root ganglion neuronsAbnormal thermal thresholdsNerve fiber densityQuantitative sensory testingUnmyelinated C-fibersSFN patientsAutonomic dysfunctionNeuropathic painAδ fibersGanglion neuronsC-fibersPeripheral axonsSensory testingSpecific treatmentSodium channelopathiesApparent causeFiber densitySodium channelsLogical targetNeuropathyPain
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