2011
Intra- and Interfamily Phenotypic Diversity in Pain Syndromes Associated with a Gain-of-Function Variant of NaV1.7
Estación M, Han C, Choi JS, Hoeijmakers J, Lauria G, Drenth J, Gerrits MM, Dib-Hajj SD, Faber CG, Merkies I, Waxman SG. Intra- and Interfamily Phenotypic Diversity in Pain Syndromes Associated with a Gain-of-Function Variant of NaV1.7. Molecular Pain 2011, 7: 1744-8069-7-92. PMID: 22136189, PMCID: PMC3248882, DOI: 10.1186/1744-8069-7-92.Peer-Reviewed Original ResearchConceptsParoxysmal extreme pain disorderSmall fiber neuropathyDorsal root gangliaInherited ErythromelalgiaPain syndromeFunction variantsTrigeminal ganglionIdiopathic small fiber neuropathySevere facial painQuantitative sensory testingSympathetic ganglion neuronsDifferent clinical presentationsSodium channel Nav1.7Distal painNeuropathic painFacial painAutonomic symptomsDRG neuronsPain disordersClinical presentationClinical pictureSyndrome AssociatedGanglion neuronsRoot gangliaSkin biopsies
2001
Regulation of Drosophila TRPL Channels by Immunophilin FKBP59*
Goel M, Garcia R, Estacion M, Schilling W. Regulation of Drosophila TRPL Channels by Immunophilin FKBP59*. Journal Of Biological Chemistry 2001, 276: 38762-38773. PMID: 11514552, DOI: 10.1074/jbc.m104125200.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid MotifsAmino Acid SequenceAnimalsBinding SitesCalciumCalmodulin-Binding ProteinsCationsCell LineChelating AgentsDNA, ComplementaryDrosophilaDrosophila ProteinsEgtazic AcidElectrophysiologyGene LibraryGlutathione TransferaseHumansImmunohistochemistryInsectaMembrane ProteinsMicroscopy, FluorescenceMolecular Sequence DataMutationPhotoreceptor Cells, InvertebratePolymerase Chain ReactionPrecipitin TestsProtein BindingProtein Structure, TertiaryRecombinant ProteinsSequence Homology, Amino AcidSignal TransductionTacrolimus Binding ProteinsTime FactorsTransient Receptor Potential ChannelsTwo-Hybrid System TechniquesConceptsS2 cellsTRPL channelsDrosophila head cDNA libraryDrosophila photoreceptor cellsHuman FK506-binding proteinMultimeric signaling complexesTwo-hybrid screenDrosophila S2 cellsDrosophila TRPL channelsSf9 cell lysatesFK506-binding proteinChannel activitySite-directed mutagenesisCytoplasmic membrane surfaceFura-2 assayTransient receptor potentialDrosophila homologPermeable cation channelSignaling ComplexNovel proteinCDNA librarySf9 cellsINADCytoplasmic mouthChannel regulation