Applications of proteomic technologies for understanding the premature proteolysis of CFTR.
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, which encodes an ATP-dependent anion channel. Disease-causing mutations can affect channel biogenesis, trafficking or function, and result in reduced ion transport at the apical surface of many tissues. The most common CFTR mutation is a deletion of phenylalanine at position 508 (DeltaF508), which results in a misfolded protein that is prematurely targeted for degradation. This article focuses on how proteomic approaches have been utilized to explore the mechanisms of premature proteolysis in CF. Additionally, we emphasize the potential for proteomic-based technologies in expanding our understanding of CF pathophysiology and therapeutic approaches.
Henderson
Mark J
MJ
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA.
Singh
Om V
OV
Zeitlin
Pamela L
PL
D003550:Cystic Fibrosis / Q000188:drug therapy / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000378:metabolism*; D010450:Endopeptidases / Q000378:metabolism; D006801:Humans; D040901:Proteomics / Q000379:methods*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D010450:Endopeptidases