A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2019; you can also visit the original URL.
The file type is application/pdf
.
Abstracts from the 24th Congress of the Italian Society of Cystic Fibrosis and the 14th National Congress of Cystic Fibrosis Italian Society
2019
Italian Journal of Pediatrics
Cystic Fibrosis (CF) is caused by a variety of mutations of the CFTR ion channel, with deletion of phenylalanine 508 (F508del) representing approximately 70% of patients. This mutation induces a proteinopathy, characterized by aggregates of mutated and unfolded proteins, hyper-inflammation, impaired trafficking and altered metabolism at cellular level. CFTR dysfunction has primarily a devastating effect on lungs, causing chronic inflammation and recurrent unresolved infections. CF patients
doi:10.1186/s13052-019-0631-0
fatcat:mdvgmrdjozcbrphhb6rouu37xa