2025
Systemic in utero gene editing as a treatment for cystic fibrosis
Ricciardi A, Barone C, Putman R, Quijano E, Gupta A, Nguyen R, Mandl H, Piotrowski-Daspit A, Lopez-Giraldez F, Luks V, Freedman-Weiss M, Farrelly J, Ahle S, Lynn A, Glazer P, Saltzman W, Stitelman D, Egan M. Systemic in utero gene editing as a treatment for cystic fibrosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2418731122. PMID: 40493185, PMCID: PMC12184489, DOI: 10.1073/pnas.2418731122.Peer-Reviewed Original ResearchConceptsUtero gene editingCystic fibrosisCF transmembrane conductance regulatorTreat CF patientsTransmembrane conductance regulatorWild-type miceIrreversible organ damageNormal organ developmentTreat monogenic diseasesCFTR activityCF patientsConductance regulatorDisease-causing genesMultiorgan diseaseDisease improvementOrgan damageGene editingMonogenic diseasesMutation correctionPolymeric nanoparticlesGastrointestinal tissuesDiseaseBirthFibrosisReproductive systemCFTR dictates monocyte adhesion by facilitating integrin clustering but not activation
Younis D, Marosvari M, Liu W, Pulikkot S, Cao Z, Zhou B, Vella A, McArdle S, Hu L, Chen Y, Gan W, Yu J, Bruscia E, Fan Z. CFTR dictates monocyte adhesion by facilitating integrin clustering but not activation. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2412717122. PMID: 39813254, PMCID: PMC11760921, DOI: 10.1073/pnas.2412717122.Peer-Reviewed Original ResearchConceptsIntegrin clusteringCF transmembrane conductance regulatorCystic fibrosisAdhesion defectsPathogenesis of cystic fibrosisClinically relevant disease modelsMembrane recruitmentTransmembrane conductance regulatorIntegrin activationTherapeutic strategy designRelevant disease modelsIntegrinCF monocytesCell adhesionMonocyte dysfunctionPatients' monocytesTissue infectionsConductance regulatorSuperresolution microscopyCortex formationLeukocyte-dependent inflammationInflammatory pathogenesisLeukocyte adhesionMonocytesInflammation
2022
Recruited monocytes/macrophages drive pulmonary neutrophilic inflammation and irreversible lung tissue remodeling in cystic fibrosis
Öz H, Cheng E, Di Pietro C, Tebaldi T, Biancon G, Zeiss C, Zhang P, Huang P, Esquibies S, Britto C, Schupp J, Murray T, Halene S, Krause D, Egan M, Bruscia E. Recruited monocytes/macrophages drive pulmonary neutrophilic inflammation and irreversible lung tissue remodeling in cystic fibrosis. Cell Reports 2022, 41: 111797. PMID: 36516754, PMCID: PMC9833830, DOI: 10.1016/j.celrep.2022.111797.Peer-Reviewed Original ResearchConceptsC motif chemokine receptor 2Monocytes/macrophagesLung tissue damageCystic fibrosisTissue damageCF lungPulmonary neutrophilic inflammationPro-inflammatory environmentChemokine receptor 2CF lung diseaseNumber of monocytesSpecific therapeutic agentsGrowth factor βCF transmembrane conductance regulatorLung hyperinflammationLung neutrophiliaNeutrophilic inflammationNeutrophil inflammationInflammation contributesLung damageNeutrophil recruitmentLung diseaseLung tissueReceptor 2Therapeutic target
2013
Targeting the Intracellular Environment in Cystic Fibrosis: Restoring Autophagy as a Novel Strategy to Circumvent the CFTR Defect
Villella VR, Esposito S, Bruscia EM, Maiuri MC, Raia V, Kroemer G, Maiuri L. Targeting the Intracellular Environment in Cystic Fibrosis: Restoring Autophagy as a Novel Strategy to Circumvent the CFTR Defect. Frontiers In Pharmacology 2013, 4: 1. PMID: 23346057, PMCID: PMC3549520, DOI: 10.3389/fphar.2013.00001.Peer-Reviewed Original ResearchCF transmembrane conductance regulatorIntracellular environmentMutant CF transmembrane conductance regulatorF508del-CFTR proteinBeclin-1CFTR channel activityTransmembrane conductance regulatorDefective CF transmembrane conductance regulatorDirect gene transferGeneral proteostasisProteostasis regulatorsConformational diseasesDisabled autophagyCFTR mutantsAutophagosome formationPlasma membraneConductance regulatorF508del-CFTRCommon deletion mutationsDeletion mutationsRecent pre-clinical evidenceIntracellular retentionGene transferCFTR defectProteostasis
2011
Abnormal Trafficking and Degradation of TLR4 Underlie the Elevated Inflammatory Response in Cystic Fibrosis
Bruscia EM, Zhang PX, Satoh A, Caputo C, Medzhitov R, Shenoy A, Egan ME, Krause DS. Abnormal Trafficking and Degradation of TLR4 Underlie the Elevated Inflammatory Response in Cystic Fibrosis. The Journal Of Immunology 2011, 186: 6990-6998. PMID: 21593379, PMCID: PMC3111054, DOI: 10.4049/jimmunol.1100396.Peer-Reviewed Original ResearchConceptsCF transmembrane conductance regulatorFunctional CF transmembrane conductance regulatorMurine cellsIFN regulatory factor-3 pathwaysPrimary murine cellsTransmembrane conductance regulator
1993
Localization of the cystic fibrosis transmembrane conductance regulator in human bile duct epithelial cells
Cohn J, Strong T, Picciotto M, Nairn A, Collins F, Fitz J. Localization of the cystic fibrosis transmembrane conductance regulator in human bile duct epithelial cells. Gastroenterology 1993, 105: 1857-1864. PMID: 7504645, DOI: 10.1016/0016-5085(93)91085-v.Peer-Reviewed Original ResearchConceptsCF transmembrane conductance regulatorBile duct cellsCystic fibrosisCFTR messenger RNADuct cellsHuman bile duct epithelial cellsBile duct epithelial cellsBile duct proliferationIntrahepatic bile ductsDuct epithelial cells
1991
Localization of the cystic fibrosis transmembrane conductance regulator in pancreas.
Marino CR, Matovcik LM, Gorelick FS, Cohn JA. Localization of the cystic fibrosis transmembrane conductance regulator in pancreas. Journal Of Clinical Investigation 1991, 88: 712-716. PMID: 1713921, PMCID: PMC295422, DOI: 10.1172/jci115358.Peer-Reviewed Original ResearchConceptsCF transmembrane conductance regulatorCystic fibrosisTransmembrane conductance regulatorCFTR peptidesPancreatic secretory functionDouble-label immunofluorescence studiesConductance regulatorDuct epithelial cellsCystic fibrosis transmembrane conductance regulatorFibrosis transmembrane conductance regulatorPancreatic insufficiencyIntralobular duct cellsSecretory functionHuman pancreasCFTR moleculesChloride transportMonoclonal antibodiesApical domainDuct cellsAntibodiesEpithelial cellsAcinar cellsCFTR proteinImmunofluorescence studiesProtein products
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