title: Functional genomics assays to study CFTR traffic and ENaC function.
abstract: As several genomes have been sequenced, post-genomic approaches like transcriptomics and proteomics, identifying gene products differentially expressed in association with a given pathology, have held promise both of understanding the pathways associated with the respective disease and as a fast track to therapy. Notwithstanding, these approaches cannot distinguish genes and proteins with mere secondary pathological association from those primarily involved in the basic defect(s). New global strategies and tools identifying gene products responsible for the basic cellular defect(s) in CF pathophysiology currently being performed are presented here. These include high-content screens to determine proteins affecting function and trafficking of CFTR and ENaC.
authors.affiliation: Faculty of Sciences, BioFiG-Centre for Biodiversity and Functional and Integrative Genomics, University of Lisboa, Lisboa, Portugal. jcalmaca@fc.ul.pt
authors.forename: Joana
authors.initials: J
authors.lastname: Almaça
authors.forename: Shehrazade
authors.initials: S
authors.lastname: Dahimène
authors.forename: Nicole
authors.initials: N
authors.lastname: Appel
authors.forename: Christian
authors.initials: C
authors.lastname: Conrad
authors.forename: Karl
authors.initials: K
authors.lastname: Kunzelmann
authors.forename: Rainer
authors.initials: R
authors.lastname: Pepperkok
authors.forename: Margarida D
authors.initials: MD
authors.lastname: Amaral
mesh_terms: D045744:Cell Line, Tumor; D003550:Cystic Fibrosis / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000037:antagonists & inhibitors / Q000235:genetics / Q000378:metabolism; D004847:Epithelial Cells / Q000378:metabolism / Q000473:pathology; D062686:Epithelial Sodium Channel Blockers; D053503:Epithelial Sodium Channels / Q000235:genetics / Q000378:metabolism; D005453:Fluorescence; D020868:Gene Silencing; D023281:Genomics / Q000379:methods*; D057166:High-Throughput Screening Assays; D006801:Humans; D018613:Microscopy, Confocal; D009154:Mutation; D010957:Plasmids / Q000378:metabolism; D021381:Protein Transport; D034741:RNA, Small Interfering / Q000378:metabolism; D017384:Sequence Deletion; D013050:Spectrometry, Fluorescence; D014162:Transfection
chemical_list: D062686:Epithelial Sodium Channel Blockers; D053503:Epithelial Sodium Channels; D034741:RNA, Small Interfering; D019005:Cystic Fibrosis Transmembrane Conductance Regulator