2024
Next generation triplex-forming PNAs for site-specific genome editing of the F508del CFTR mutation
Gupta A, Barone C, Quijano E, Piotrowski-Daspit A, Perera J, Riccardi A, Jamali H, Turchick A, Zao W, Saltzman W, Glazer P, Egan M. Next generation triplex-forming PNAs for site-specific genome editing of the F508del CFTR mutation. Journal Of Cystic Fibrosis 2024 PMID: 39107154, DOI: 10.1016/j.jcf.2024.07.009.Peer-Reviewed Original ResearchCystic fibrosis transmembrane conductance regulatorCystic fibrosis transmembrane conductance regulator geneF508del-CFTR mutationPeptide nucleic acidCFBE cellsBronchial epithelial cellsCystic fibrosisTriplex-forming peptide nucleic acidsDonor DNACFTR mutationsEpithelial cellsCFTR functionMutations associated with genetic diseasesPrimary nasal epithelial cellsAnalysis of genomic DNAGenetic diseasesIncreased CFTR functionDevelopment of peptide nucleic acidsImprove CFTR functionTransmembrane conductance regulatorAutosomal recessive genetic diseaseNasal epithelial cellsAir-liquid interfaceCystic fibrosis bronchial epithelial cellsHuman bronchial epithelial cells
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
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