2013
Disease-relevant proteostasis regulation of cystic fibrosis transmembrane conductance regulator
Villella VR, Esposito S, Bruscia EM, Vicinanza M, Cenci S, Guido S, Pettoello-Mantovani M, Carnuccio R, De Matteis MA, Luini A, Maiuri MC, Raia V, Kroemer G, Maiuri L. Disease-relevant proteostasis regulation of cystic fibrosis transmembrane conductance regulator. Cell Death & Differentiation 2013, 20: 1101-1115. PMID: 23686137, PMCID: PMC3705602, DOI: 10.1038/cdd.2013.46.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsBeclin-1BronchiCell LineCell MembraneCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorEpithelial CellsHumansMembrane ProteinsMutationPhosphoric Monoester HydrolasesProteostasis DeficienciesRab5 GTP-Binding ProteinsReceptors, TransferrinSequestosome-1 ProteinConceptsCFTR proteinBronchial epithelial cellsCFTR surface expressionSmall GTPase Rab5Cystic fibrosis transmembrane conductance regulatorFibrosis transmembrane conductance regulatorWild-type CFTRFunctional CFTR proteinSQSTM1/p62Transmembrane conductance regulatorPositive feed-forward loopPlasma membrane stabilityFeed-forward loopEpithelial cellsProteostasis regulationProtein traffickingProteostasis networkGTPase Rab5Rab5 effectorProteostasis regulatorsConformational diseasesCystic fibrosis transmembrane conductance regulator (CFTR) potentiatorRecycling defectsSQSTM1 accumulationUnexpected link
2008
Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR).
Sangiuolo F, Scaldaferri ML, Filareto A, Spitalieri P, Guerra L, Favia M, Caroppo R, Mango R, Bruscia E, Gruenert DC, Casavola V, De Felici M, Novelli G. Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR). Frontiers In Bioscience-Landmark 2008, 13: 2989-99. PMID: 17981772, PMCID: PMC3725395, DOI: 10.2741/2904.Peer-Reviewed Original ResearchConceptsSmall fragment homologous replacementES cellsSmall DNA fragmentsGene functionHomologous replacementEmbryonic stem cell genomeMouse embryonic stem cell genomeGenomic DNAMurine ES cellsTissue-specific gene functionEndogenous genomic DNAMouse embryonic stem cellsSpecific genomic lociStem cell genomeNormal gene functionCFTR-dependent chloride effluxEmbryonic stem cellsDifferent cell lineagesGene correctionGenomic lociGenomic sequencesCFTR locusCell genomeDifferent genesCell lineages
2002
Towards the pharmacogenomics of cystic fibrosis
Sangiuolo F, DApice M, Bruscia E, Lucidi V, Novelli G. Towards the pharmacogenomics of cystic fibrosis. Pharmacogenomics 2002, 3: 75-87. PMID: 11966405, DOI: 10.1517/14622416.3.1.75.Peer-Reviewed Original ResearchConceptsCystic fibrosisPancreatic insufficiencyChronic obstructive lung diseaseRelated clinical diseasesObstructive lung diseaseElevated sweat chloride concentrationsExocrine pancreatic insufficiencySweat chloride concentrationCongenital bilateral absenceMultiorgan diseaseChronic pancreatitisClinical symptomsLung diseaseDrug therapyClinical diseaseClinical overlapRecessive genetic diseaseTherapeutic questionsBilateral absenceDrug efficacyDiseaseVas deferensTherapy approachesFibrosisSymptoms
1999
Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility
Semprini S, Capon F, Bovolenta S, Bruscia E, Pizzuti A, Fabrizi G, Schietroma C, Zambruno G, Dallapiccola B, Novelli G. Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility. Human Genetics 1999, 104: 130-134. PMID: 10190323, DOI: 10.1007/s004390050925.Peer-Reviewed Original ResearchConceptsGenomic structureComplex gene clustersSp1-binding motifTranscription start siteStrong promoter activityPsoriasis susceptibilityΒ-galactosidase geneExon-intron boundariesGene clusterStart siteTATA boxGene promoterNucleotide variationsSingle-strand conformation polymorphismMutational analysisPromoter activityPromoter regionChromosome 1q21Sequencing techniquesS100A7 geneFunctional assaysGenesSets of primersDirect sequencing techniquePreferential association