Ontology highlight
ABSTRACT:
SUBMITTER: Maiuri L
PROVIDER: S-EPMC5635223 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Maiuri Luigi L Raia Valeria V Kroemer Guido G
Cell death and differentiation 20170922 11
Etiological therapies aim at repairing the underlying cause of cystic fibrosis (CF), which is the functional defect of the cystic fibrosis transmembrane conductance regulator (CFTR) protein owing to mutations in the CFTR gene. Among these, the F508del CFTR mutation accounts for more than two thirds of CF cases worldwide. Two somehow antinomic schools of thought conceive CFTR repair in a different manner. According to one vision, drugs should directly target the mutated CFTR protein to increase i ...[more]