Article
Improvement of chloride transport defect by gonadotropin-releasing hormone (GnRH) in cystic fibrosis epithelial cells.
PloS one - 1 Jan 2014
Benz Nathalie, Le Hir Sophie, Norez Caroline, Kerbiriou Mathieu, Calvez Marie-Laure, Becq Frédéric, Trouvé Pascal, Férec Claude
Abstract excerpt
Cystic fibrosis (CF), the most common autosomal recessive disease in Caucasians, is due to mutations in the CFTR gene. F508del, the most frequent mutation in patients, impairs CFTR protein folding and biosynthesis. The F508del-CFTR protein is retained in the endoplasmic reticulum (ER) and its traffic to the plasma membrane is altered. Nevertheless, if it reaches the cell surface, it exhibits a Cl(-) channel...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.