2023
Future therapies for cystic fibrosis
Allen L, Allen L, Carr S, Davies G, Downey D, Egan M, Forton J, Gray R, Haworth C, Horsley A, Smyth A, Southern K, Davies J. Future therapies for cystic fibrosis. Nature Communications 2023, 14: 693. PMID: 36755044, PMCID: PMC9907205, DOI: 10.1038/s41467-023-36244-2.Peer-Reviewed Original ResearchConceptsMutation-specific drugsCystic fibrosisSymptom-directed treatmentMultisystem clinical manifestationsCystic fibrosis therapyCystic fibrosis transmembrane conductance regulatorGenetic variantsClinical manifestationsFuture therapiesFibrosis therapyTranslational research collaborationsModulator drugsCFTR modulatorsSingle gene disordersHealth inequalitiesTherapyGene variantsImproved treatmentDrugsPatientsFibrosisFibrosis transmembrane conductance regulatorGene disordersTransmembrane conductance regulatorStrategy group
2022
Non-Modulator Therapies Developing a Therapy for Every Cystic Fibrosis Patient
Egan M. Non-Modulator Therapies Developing a Therapy for Every Cystic Fibrosis Patient. Clinics In Chest Medicine 2022, 43: 717-725. PMID: 36344076, DOI: 10.1016/j.ccm.2022.06.011.Peer-Reviewed Original ResearchConceptsModulator therapyCystic fibrosisCystic fibrosis transmembrane conductance regulator (CFTR) modulator therapiesCFTR modulator therapyTreatment of CFCystic fibrosis patientsGenetic-based therapiesMost patientsCF patientsFibrosis patientsTherapyPremature termination codon mutationsTherapeutic agentsPatientsDNA therapyRNA therapyTermination codon mutationsCodon mutation
2021
Emerging technologies for cystic fibrosis transmembrane conductance regulator restoration in all people with CF
Egan ME. Emerging technologies for cystic fibrosis transmembrane conductance regulator restoration in all people with CF. Pediatric Pulmonology 2021, 56: s32-s39. PMID: 32681713, PMCID: PMC8114183, DOI: 10.1002/ppul.24965.Peer-Reviewed Original Research
2020
Cystic fibrosis transmembrane conductance receptor modulator therapy in cystic fibrosis, an update.
Egan ME. Cystic fibrosis transmembrane conductance receptor modulator therapy in cystic fibrosis, an update. Current Opinion In Pediatrics 2020, 32: 384-388. PMID: 32374578, DOI: 10.1097/mop.0000000000000892.Peer-Reviewed Original ResearchConceptsModulator therapyCystic fibrosisCFTR modulatorsLung functionElexacaftor/tezacaftor/ivacaftorEffective CFTR modulatorsEffective triple therapyTezacaftor/ivacaftorMonths of ageQuality of lifeCystic fibrosis patientsLong-term usePulmonary exacerbationsTriple therapyFirst therapyLong-term benefitsReceptor modulatorsFibrosisFibrosis patientsTherapyUnderlying causeWeight gainPatientsImproved healthCFTR mutations
2015
Genetics of Cystic Fibrosis Clinical Implications
Egan ME. Genetics of Cystic Fibrosis Clinical Implications. Clinics In Chest Medicine 2015, 37: 9-16. PMID: 26857764, DOI: 10.1016/j.ccm.2015.11.002.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane conductance regulator (CFTR) proteinMutant cystic fibrosis transmembrane conductance regulator (CFTR) proteinRegulator proteinMutational classesModifier genesFunctional consequencesCFTR functionCFTR geneRecessive genetic disorderRespiratory phenotypeGenesSpecific CF genotypesAutosomal recessive genetic disorderGenetic disordersCFTR genotypeCystic fibrosisGenotypesGeneticsProteinCF genotypeMutationsPhenotypeNew therapiesVariants
2009
Partial Correction of Cystic Fibrosis Defects with PLGA Nanoparticles Encapsulating Curcumin
Cartiera MS, Ferreira EC, Caputo C, Egan ME, Caplan MJ, Saltzman WM. Partial Correction of Cystic Fibrosis Defects with PLGA Nanoparticles Encapsulating Curcumin. Molecular Pharmaceutics 2009, 7: 86-93. PMID: 19886674, PMCID: PMC2815009, DOI: 10.1021/mp900138a.Peer-Reviewed Original ResearchAdministration, OralAnimalsBiological AvailabilityBiological Transport, ActiveCurcuminCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorEnzyme InhibitorsHumansLactic AcidMiceMice, Inbred C57BLMice, Inbred CFTRMicroscopy, Electron, ScanningMutationNanoparticlesPolyglycolic AcidPolylactic Acid-Polyglycolic Acid CopolymerSarcoplasmic Reticulum Calcium-Transporting ATPases
2006
ΔF508 Mutation Results in Impaired Gastric Acid Secretion*
Sidani SM, Kirchhoff P, Socrates T, Stelter L, Ferreira E, Caputo C, Roberts KE, Bell RL, Egan ME, Geibel JP. ΔF508 Mutation Results in Impaired Gastric Acid Secretion*. Journal Of Biological Chemistry 2006, 282: 6068-6074. PMID: 17178714, DOI: 10.1074/jbc.m608427200.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane conductance regulatorATP-binding cassette (ABC) transportersFibrosis transmembrane conductance regulatorTransmembrane conductance regulatorMouse gastric glandsParietal cellsMultifunctional proteinCFTR proteinRegulatory proteinsTransport proteinsCassette transportersConductance regulatorRegulatory roleApical poleSecretagogue-induced acid secretionGland lumenGastric glandsSulfonylurea receptorProteinImpaired gastric acid secretionK-ATPaseCl(-) secretionImmunofluorescent localizationCl- channelsATP-sensitive potassium channels
2004
Curcumin, a Major Constituent of Turmeric, Corrects Cystic Fibrosis Defects
Egan ME, Pearson M, Weiner SA, Rajendran V, Rubin D, Glöckner-Pagel J, Canny S, Du K, Lukacs GL, Caplan MJ. Curcumin, a Major Constituent of Turmeric, Corrects Cystic Fibrosis Defects. Science 2004, 304: 600-602. PMID: 15105504, DOI: 10.1126/science.1093941.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCalciumCalnexinCell LineCell MembraneCricetinaeCurcuminCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorElectrolytesEndoplasmic ReticulumGene TargetingGlycosylationHumansIntestinal MucosaIntestinal ObstructionIsoproterenolMembrane PotentialsMiceMice, KnockoutMutationNasal MucosaPolyethylene GlycolsProtein FoldingRectumTransfectionConceptsCystic fibrosis transmembrane conductance regulatorCFTR proteinDeltaF508 cystic fibrosis transmembrane conductance regulatorDeltaF508 CFTR proteinFibrosis transmembrane conductance regulatorTransmembrane conductance regulatorBaby hamster kidney cellsPlasma membraneComplete knockoutConductance regulatorHamster kidney cellsEndoplasmic reticulumCystic fibrosis defectCFTR geneKidney cellsCFTR miceGenesProteinMutationsCommon mutationsHomozygous expressionCurcumin treatmentFunctional appearanceWeight basisRegulator
2001
Effects of the Serine/Threonine Kinase SGK1 on the Epithelial Na+ Channel (ENaC) and CFTR: Implications for Cystic Fibrosis
Wagner C, Ott M, Klingel K, Beck S, Melzig J, Friedrich B, Wild K, Bröer S, Moschen I, Albers A, Waldegger S, Tümmler B, Egan M, Geibel J, Kandolf R, Lang F. Effects of the Serine/Threonine Kinase SGK1 on the Epithelial Na+ Channel (ENaC) and CFTR: Implications for Cystic Fibrosis. Cellular Physiology And Biochemistry 2001, 11: 209-218. PMID: 11509829, DOI: 10.1159/000051935.Peer-Reviewed Original ResearchMeSH Keywords1-Methyl-3-isobutylxanthineAmino Acid SubstitutionAnimalsBronchiCell LineCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorEpithelial CellsEpithelial Sodium ChannelsHumansIn Situ HybridizationLungMacrophages, AlveolarMutationOocytesPatch-Clamp TechniquesProtein Serine-Threonine KinasesPulmonary AlveoliRNA, ComplementaryRNA, MessengerSodiumSodium ChannelsXenopus laevisConceptsSerine/threonine kinase SGK1Lung tissueCystic fibrosisCF patientsKinase SGK1CF lung tissueXenopus oocytesLoss of CFTRLung epithelial cell lineCoexpression of CFTREffect of SGK1Pathophysiological factorsEpithelial cell lineRespiratory epitheliumLung phenotypeVariety of stimuliCl(-) secretionSGK1 expressionInhibitor amilorideInhibitory effectEpithelial cellsEnhanced expressionChannel ENaC.CFTR mutationsChannel activity