2025
Phenotype Spectrum of TRPM3‐Associated Disorders
Jolitz L, Helbig I, Fitzgerald M, Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen H, Cuppen I, Christodoulou J, Wilson M, Lake N, Biskup S, Syrbe S, Mori T, Becker L, Kaindl A. Phenotype Spectrum of TRPM3‐Associated Disorders. Annals Of Neurology 2025, 97: 561-570. PMID: 39749750, PMCID: PMC11831877, DOI: 10.1002/ana.27141.Peer-Reviewed Original ResearchConceptsEffective anti-seizure medicationDevelopmental delayGain-of-function variantsDevelopmental delay/intellectual disabilitySpike wave activityAnti-seizure medicationsPreponderance of girlsSystematic literature searchOcular involvementMedian ageMusculoskeletal anomaliesClinical spectrumAxial hypotoniaDysmorphic featuresElectroencephalogram abnormalitiesEffects of treatmentClinical manifestationsTreated patientsEpileptic encephalopathyMonoallelic variantsTreatment optionsFrequent findingPhenotypic spectrumVariant p.Epilepsy phenotype
2023
SHANK3 in vagal sensory neurons regulates body temperature, systemic inflammation, and sepsis
Zhang L, Bang S, He Q, Matsuda M, Luo X, Jiang Y, Ji R. SHANK3 in vagal sensory neurons regulates body temperature, systemic inflammation, and sepsis. Frontiers In Immunology 2023, 14: 1124356. PMID: 36845137, PMCID: PMC9944123, DOI: 10.3389/fimmu.2023.1124356.Peer-Reviewed Original ResearchConceptsVagal sensory neuronsNodose ganglionSensory neuronsSystemic inflammationBody temperatureDorsal root ganglion sensory neuronsSerum IL-6 levelsAuricular vagus nerve stimulationBasal core temperatureIL-6 levelsVagus nerve stimulationAutism spectrum disorderRole of Shank3Conditional knockout miceSynaptic scaffolding proteinsSepsis mortalityNerve stimulationExcessive inflammationHeat painInflammation dysregulationKO miceKnockout miceInflammationSHANK3 expressionNovel molecular mechanism
2022
Incompletely penetrant TRPM4‐associated progressive symmetric erythrokeratodermia responses to methotrexate
Jiang X, Wang Z, Lin Z, Xu Z, Wang H. Incompletely penetrant TRPM4‐associated progressive symmetric erythrokeratodermia responses to methotrexate. The Journal Of Dermatology 2022, 49: e422-e423. PMID: 35796031, DOI: 10.1111/1346-8138.16503.Peer-Reviewed Original Research
2021
Upregulation of transient receptor potential melastatin 4 (TRPM4) in ventricular fibroblasts from heart failure patients
Feng J, Zong P, Yan J, Yue Z, Li X, Smith C, Ai X, Yue L. Upregulation of transient receptor potential melastatin 4 (TRPM4) in ventricular fibroblasts from heart failure patients. Pflügers Archiv - European Journal Of Physiology 2021, 473: 521-531. PMID: 33594499, PMCID: PMC8857941, DOI: 10.1007/s00424-021-02525-2.Peer-Reviewed Original ResearchMeSH KeywordsFemaleFibroblastsHeart FailureHeart VentriclesHumansMaleMiddle AgedMyocytes, CardiacTRPM Cation ChannelsUp-RegulationConceptsTransient receptor potential melastatin 4Heart failure patientsControl individualsCardiac conductionTRPM4 activityFailure patientsNonselective monovalent cation channelImpaired cardiac conductionIntracellular calcium activityTRP channel superfamilyMonovalent cation channelLoss-of-function mutationsCardiac myocytesVentricular fibroblastsCation channelsConduction defectsHeart failureCardiac fibrogenesisTGFB1 treatmentCardiac fibroblastsGain-of-functionCalcium activityPatientsHF fibroblastsChannel superfamily
2017
Molecular Prerequisites for Diminished Cold Sensitivity in Ground Squirrels and Hamsters
Matos-Cruz V, Schneider ER, Mastrotto M, Merriman DK, Bagriantsev SN, Gracheva EO. Molecular Prerequisites for Diminished Cold Sensitivity in Ground Squirrels and Hamsters. Cell Reports 2017, 21: 3329-3337. PMID: 29262313, PMCID: PMC5741102, DOI: 10.1016/j.celrep.2017.11.083.Peer-Reviewed Original ResearchConceptsTransmembrane domainCold toleranceCold sensitivityGround squirrelsRat orthologMolecular adaptationsMammalian hibernatorsReciprocal mutationsAmino acidsFunctional significanceOrthologsSquirrelsMolecular prerequisitesActive stateHibernatorsTRPM8Somatosensory neuronsTolerancePoor activationSpeciesDomainMutationsResiduesHibernationCellsTransient Receptor Potential Cation Channel Subfamily M Member 8 channels mediate the anti‐inflammatory effects of eucalyptol
Caceres AI, Liu B, Jabba SV, Achanta S, Morris JB, Jordt S. Transient Receptor Potential Cation Channel Subfamily M Member 8 channels mediate the anti‐inflammatory effects of eucalyptol. British Journal Of Pharmacology 2017, 174: 867-879. PMID: 28240768, PMCID: PMC5387001, DOI: 10.1111/bph.13760.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnti-Infective AgentsAnti-Inflammatory AgentsCyclohexanolsDose-Response Relationship, DrugEdemaEucalyptolFemaleHEK293 CellsHumansInflammationInflammation MediatorsMaleMiceMice, Inbred C57BLMice, KnockoutMonoterpenesRandom AllocationTransient Receptor Potential ChannelsTRPM Cation ChannelsConceptsAnti-inflammatory effectsComplete Freund's adjuvantTRPM8 channelsPulmonary inflammationLeukocyte infiltrationNovel anti-inflammatory agentsInflammatory pain responsesSelective TRPM8 agonistsAdministration of LPSAnti-inflammatory propertiesChannel-deficient miceAnti-inflammatory agentsEffect of eucalyptolProduction of TNFTRP cation channelsMechanical allodyniaChemokine levelsTRPM8 agonistMyeloperoxidase activityFootpad inflammationFreund's adjuvantPain responseIL-1βIL-6Inflammatory cytokines
2016
Menthol decreases oral nicotine aversion in C57BL/6 mice through a TRPM8-dependent mechanism
Fan L, Balakrishna S, Jabba SV, Bonner PE, Taylor SR, Picciotto MR, Jordt SE. Menthol decreases oral nicotine aversion in C57BL/6 mice through a TRPM8-dependent mechanism. Tobacco Control 2016, 25: ii50. PMID: 27698211, PMCID: PMC5496986, DOI: 10.1136/tobaccocontrol-2016-053209.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDose-Response Relationship, DrugMaleMentholMiceMice, Inbred C57BLMice, KnockoutNicotineNicotinic AgonistsTobacco, SmokelessTRPM Cation ChannelsConceptsSmokeless tobacco productsWild-type miceOral nicotineC57BL/6 miceTobacco productsNicotine aversionAversive effectsTwo-bottle choice drinkingTrigeminal sensory neuronsEffect of mentholProduct useMenthol concentrationOral mentholSensory neuronsAversive concentrationsMenthol receptorOral cavityMenthol effectsRespiratory irritationMiceNicotineTRPM8Oral irritantsIrritantsAversive taste
2015
Hepatocystin is Essential for TRPM7 Function During Early Embryogenesis
Overton JD, Komiya Y, Mezzacappa C, Nama K, Cai N, Lou L, Fedeles SV, Habas R, Runnels LW. Hepatocystin is Essential for TRPM7 Function During Early Embryogenesis. Scientific Reports 2015, 5: 18395. PMID: 26671672, PMCID: PMC4680877, DOI: 10.1038/srep18395.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell LineEmbryo, NonmammalianEmbryonic DevelopmentGastrulaGlucosidasesHumansMiceTRPM Cation ChannelsXenopus laevisXenopus ProteinsConceptsXenopus laevis embryosEmbryonic lethalityTRPM7 functionLaevis embryosProtein kinase C substrate 80KEarly embryonic lethalityNoncatalytic beta subunitXenopus laevis embryogenesisEmbryonic day E11.5TRPM7 ion channelVertebrate gastrulationGastrulation defectsResident enzymesEarly embryogenesisPolycystin-2TRPM7 protein expressionDay E11.5KDa proteinGlucosidase IIEndoplasmic reticulumBeta subunitOverexpression of TRPM7Second alleleSomatic lossIon channelsThe distinct genetic pattern of ALS in Turkey and novel mutations
Özoğuz A, Uyan Ö, Birdal G, Iskender C, Kartal E, Lahut S, Ömür Ö, Agim ZS, Eken A, Sen NE, Kavak P, Saygı C, Sapp PC, Keagle P, Parman Y, Tan E, Koç F, Deymeer F, Oflazer P, Hanağası H, Gürvit H, Bilgiç B, Durmuş H, Ertaş M, Kotan D, Akalın M, Güllüoğlu H, Zarifoğlu M, Aysal F, Döşoğlu N, Bilguvar K, Günel M, Keskin Ö, Akgün T, Özçelik H, Landers JE, Brown RH, Başak A. The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiology Of Aging 2015, 36: 1764.e9-1764.e18. PMID: 25681989, PMCID: PMC6591733, DOI: 10.1016/j.neurobiolaging.2014.12.032.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdolescentAdultAgedAmyotrophic Lateral SclerosisAutophagy-Related ProteinsC9orf72 ProteinCell Cycle ProteinsCytoskeletal ProteinsDNA-Binding ProteinsExomeFemaleGenetic Association StudiesGuanine Nucleotide Exchange FactorsHumansIntracellular Signaling Peptides and ProteinsMaleMembrane Transport ProteinsMiddle AgedMutationNerve Tissue ProteinsNuclear ProteinsOncogene ProteinsProtein Deglycase DJ-1Protein Serine-Threonine KinasesProteinsRNA-Binding Protein FUSSequestosome-1 ProteinSuperoxide DismutaseSuperoxide Dismutase-1Transcription Factor TFIIIATRPM Cation ChannelsTurkeyUbiquitinsYoung AdultConceptsALS patientsFamilial ALS patientsSporadic ALS casesSALS patientsALS populationALS casesFamilial ALSSOD1 mutationsSQSTM1 genePatientsDistinct genetic patternsAmyotrophic lateral sclerosis mutationsExome sequencingDistinct genetic backgroundsGene mutationsSpectrum of mutationsNovel mutationsC9orf72Genetic backgroundALSMutationsPopulationSPG11TARDBP
2014
Neuronal mechanism for acute mechanosensitivity in tactile-foraging waterfowl
Schneider ER, Mastrotto M, Laursen WJ, Schulz VP, Goodman JB, Funk OH, Gallagher PG, Gracheva EO, Bagriantsev SN. Neuronal mechanism for acute mechanosensitivity in tactile-foraging waterfowl. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 111: 14941-14946. PMID: 25246547, PMCID: PMC4205607, DOI: 10.1073/pnas.1413656111.Peer-Reviewed Original ResearchConceptsTrigeminal ganglionIon channel Piezo2Light mechanical stimuliMechanoreceptive neuronsTG neuronsPrimary afferentsMechanical stimuliTrigeminal afferentsNeuronal excitationEnd organsNeuronal mechanismsDirect mechanical stimulationCellular mechanismsMechanical stimulationAfferentsNeuronsLow thresholdNumerical expansionGangliaStimuliTransient Receptor Potential Melastatin 8 Channel Inhibition Potentiates the Hypothermic Response to Transient Receptor Potential Vanilloid 1 Activation in the Conscious Mouse
Feketa V, Zhang Y, Cao Z, Balasubramanian A, Flores C, Player M, Marrelli S. Transient Receptor Potential Melastatin 8 Channel Inhibition Potentiates the Hypothermic Response to Transient Receptor Potential Vanilloid 1 Activation in the Conscious Mouse. Critical Care Medicine 2014, 42: e355-e363. PMID: 24595220, PMCID: PMC4137592, DOI: 10.1097/ccm.0000000000000229.Peer-Reviewed Original ResearchConceptsTRP melastatin 8TRP vanilloid 1Transient receptor potential channelsConscious miceTRPM8 inhibitorTransient receptor potential vanilloid 1 (TRPV1) activationCore temperatureAged male miceProspective animal studyAcademic medical centerPotential channelsCerebral ischemiaLoading doseDose-dependent dropMechanical ventilationVanilloid 1TRPV1 agonistsCardiac arrestCold defense responsesContinuous infusionAged miceHypothermic effectTherapeutic rangeMale miceHypothermic response
2013
Shivering and tachycardic responses to external cooling in mice are substantially suppressed by TRPV1 activation but not by TRPM8 inhibition
Feketa V, Balasubramanian A, Flores C, Player M, Marrelli S. Shivering and tachycardic responses to external cooling in mice are substantially suppressed by TRPV1 activation but not by TRPM8 inhibition. AJP Regulatory Integrative And Comparative Physiology 2013, 305: r1040-r1050. PMID: 24005250, PMCID: PMC3840321, DOI: 10.1152/ajpregu.00296.2013.Peer-Reviewed Original ResearchConceptsTachycardic responsesTRPV1 activationMuscle activityCore temperatureTRPM8 inhibitionConscious stroke patientsRole of TRPM8TRPM8 KO miceTreatment of strokeElectromyographic muscle activityInduction of hypothermiaCold-induced shiveringTherapeutic hypothermiaStroke patientsConscious miceTRPV1 agonistsKO miceAbdominal cavityTachycardiaBack musclesEffective hypothermiaMild decreaseProfound dropShiveringHypothermia
2011
Menthol attenuates respiratory irritation responses to multiple cigarette smoke irritants
Willis DN, Liu B, Ha MA, Jordt S, Morris JB. Menthol attenuates respiratory irritation responses to multiple cigarette smoke irritants. The FASEB Journal 2011, 25: 4434-4444. PMID: 21903934, PMCID: PMC3236628, DOI: 10.1096/fj.11-188383.Peer-Reviewed Original ResearchConceptsTransient receptor potential ankyrin 1Irritation responseMenthol effectsCold-sensitive sensory neuronsSensory TRP channelsSmoking-related morbiditySensory irritation responseEffect of mentholTransient receptor potential melastatin 8 (TRPM8) ion channelActivation of TRPM8TRPM8 agonistTRPM8 antagonistsCapsaicin receptorRespiratory tractSensory neuronsAnkyrin 1Pharmacological actionsNicotine addictionSmoking behaviorRespiratory irritationTRP channelsAgonistsSmoke constituentsAvailable cigarettesCigarettes
2007
The menthol receptor TRPM8 is the principal detector of environmental cold
Bautista DM, Siemens J, Glazer JM, Tsuruda PR, Basbaum AI, Stucky CL, Jordt SE, Julius D. The menthol receptor TRPM8 is the principal detector of environmental cold. Nature 2007, 448: 204-208. PMID: 17538622, DOI: 10.1038/nature05910.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCold TemperatureFemaleGanglia, SensoryGene TargetingMaleMentholMiceMice, Inbred C57BLThermosensingTRPM Cation ChannelsConceptsMenthol receptor TRPM8TRPM8 knockout miceIntact nerve fibersDifferent ion channelsNerve fibersWhole animal testsKnockout miceNoxious coldCold stimuliCold sensationCold transducerInnocuous coolEnvironmental coldTRPM8MiceIon channelsAnimal testsCellular levelPhysiological importanceCold sensitivityTrp Channels In Disease
JORDT SE, EHRLICH BE. Trp Channels In Disease. Subcellular Biochemistry 2007, 45: 253-271. PMID: 18193640, DOI: 10.1007/978-1-4020-6191-2_9.Peer-Reviewed Original ResearchConceptsTRP channelsTransient receptor potential channelsPainful stimuliTRPA (ankyrin) groupsRole of TrpIntracellular Ca2Intracellular storesTRP channel physiologyDiseaseNormal physiologyChannel physiologySpecific diseasesPathophysiologyPotential channelsDifferent TRPsExtracellular stimuliMain subfamiliesDistinct functionsChemical signalsStimuliPhysiologyLarge familyMutationsProgression
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