title: Targeting the Root Cause of Cystic Fibrosis.
abstract: Cystic Fibrosis (CF) is a serious genetic condition caused by CF transmembrane conductance regulator (CFTR) mutation. CF patients have shortened lifespan due to airway obstruction, infection, and end-stage lung failure. However, recent development in CF therapy suggests a brighter future for CF patients. Targeting specific CFTR mutations aims to potentiate the channel gating activity of impaired CFTR and restore protein trafficking to the plasma membrane. Gene therapy introduces correct CFTR gene into the affected airway epithelium leading to the functional expression of CFTR in CF patients. This review will sum up the current status in CF-cause targeting therapy.
authors.forename: Laura
authors.initials: L
authors.lastname: Trescott
authors.forename: Joshua
authors.initials: J
authors.lastname: Holcomb
authors.forename: Nicholas
authors.initials: N
authors.lastname: Spellmon
authors.forename: Cathy
authors.initials: C
authors.lastname: Mcleod
authors.forename: Leala
authors.initials: L
authors.lastname: Aljehane
authors.forename: Fei
authors.initials: F
authors.lastname: Sun
authors.forename: Chunying
authors.initials: C
authors.lastname: Li
authors.affiliation: Department of Biochemistry and Molecular Biology, Wayne State University School of Medicine, 540 East Canfield Street, Detroit, Michigan 48201, USA. zyang@med.wayne.edu.
authors.forename: Zhe
authors.initials: Z
authors.lastname: Yang
mesh_terms: D002462:Cell Membrane / Q000378:metabolism; D003550:Cystic Fibrosis / Q000235:genetics / Q000628:therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000037:antagonists & inhibitors / Q000737:chemistry / Q000235:genetics*; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D009154:Mutation / Q000187:drug effects; D021381:Protein Transport
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator