Article
Aggregates of mutant CFTR fragments in airway epithelial cells of CF lungs: new pathologic observations.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Mar 2015
Du Kai, Karp Philip H, Ackerley Cameron, Zabner Joseph, Keshavjee Shaf, Cutz Ernest, Yeger Herman
Abstract excerpt
Cystic fibrosis (CF) is caused by a mutation in the CF transmembrane conductance regulator (CFTR) gene resulting in a loss of Cl(-) channel function, disrupting ion and fluid homeostasis, leading to severe lung disease with airway obstruction due to mucus plugging and inflammation. The most common CFTR mutation, F508del, occurs in 90% of patients causing the mutant CFTR protein to misfold and trigger an...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.