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Cystic Fibrosis

Volume 742 of the series Methods in Molecular Biology pp 249-264

Date:

Functional Genomics Assays to Study CFTR Traffic and ENaC Function

  • Joana AlmaçaAffiliated withFaculty of Sciences, BioFiG-Centre for Biodiversity and Functional and Integrative Genomics, University of LisboaDepartment of Genetics, Centre of Human Genetics, National Institute of Health
  • , Shehrazade DahimèneAffiliated withFaculty of Sciences, BioFiG-Centre for Biodiversity and Functional and Integrative Genomics, University of Lisboa
  • , Nicole AppelAffiliated withEMBL-European Molecular Biology Laboratory
  • , Christian ConradAffiliated withEMBL-European Molecular Biology Laboratory
  • , Karl KunzelmannAffiliated withDepartment of Physiology, University of Regensburg
  • , Rainer PepperkokAffiliated withEMBL-European Molecular Biology Laboratory
  • , Margarida D. AmaralAffiliated withFaculty of Sciences, BioFiG-Centre for Biodiversity and Functional and Integrative Genomics, University of LisboaDepartment of Genetics, Centre of Human Genetics, National Institute of Health Email author 

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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.

Key words

Cystic fibrosis CFTR secretory traffic ENaC high-content screens siRNA functional genomics