Endocytic trafficking of CFTR in health and disease.
The cystic fibrosis transmembrane conductance regulator (CFTR) is a Cl-selective anion channel expressed in epithelial tissues. Mutations in CFTR lead to the genetic disease cystic fibrosis (CF). Within each epithelial cell, CFTR interacts with a large number of transient macromolecular complexes, many of which are involved in the trafficking and targeting of CFTR. Understanding how these complexes regulate the trafficking and fate of CFTR, provides a singular insight not only into the patho-physiology of cystic fibrosis, but also provides potential drug targets to help cure this debilitating disease.
Ameen
Nadia
N
Department of Paediatrics, University of Pittsburgh School of Medicine, PA, USA.
Silvis
Mark
M
Bradbury
Neil A
NA
D000818:Animals; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D004705:Endocytosis / Q000502:physiology*; D006801:Humans; D016415:Sequence Alignment; D013329:Structure-Activity Relationship; D022161:Transport Vesicles / Q000502:physiology
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator