Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies.

We demonstrate that the proteostasis regulator cysteamine, which rescues the function of the most common F508del-CFTR mutant and hence reduces lung inflammation in CF patients, can

Genetic depletion of SQSTM1, transgene-enforced BECN1 overexpression, or addition of autophagy-stimulatory pro- teostasis regulators, such as cystamine (or its reduced form

Fig. 6 Evaluation of amiodarone induced autophagy and maturation of CFTR in Cfbe41o- human epithelial cells. b Data in the graph presented means ± SEM of at least three

After defining 31 distinct cell types, they detected CFTR in alveolar type 2 cells (48.1% of total signal), secretory cells (34.6% of total signal), multiciliated cells (8.4% of

In control experiments we used A549 cells, which did not express the CFTR protein, and cells transfected with both the cDNA encoding CFTR and the siRNA or with both the cDNA

In order to further approach the in situ structural arrangement of domains such as the fibrillar portion of the nucleolus, the perichromatin region, the inter- chromatin space or

Mutations in the Cystic Fibrosis (CF) gene alter the structure and function of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) channel, impairing the flow of

Keywords: W361R-CFTR, missense CF mutations, class-2 CF mutations, small molecules modulators, cystic fibrosis transmembrane conductance