Cystic fibrosis is the most common hereditary disease in European descendant populations, with prevalence depending on ethnic groups studied. In contrast to other European countries, there is little information regarding the frequency of CFTR mutations for the Southern part of Romania. The aim of this study was to test the presence of nine CFTR mutations in CF patients from the Southern part of...

Introduction The proteins are manifestation of the genetic functions and are central to various biological processes. Misfolded proteins may lead to pre-fibrillar assemblies and and can cause destabilizing mutations on disease proteins. Protein folding has been studied in detail by both experimental and theoretical methods (Soto & Estrada, 2008). Human diseases characterized by insoluble deposi...

Intracellular trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) is a focus of attention because it is defective in most patients with cystic fibrosis. F508 CFTR, which does not mature conformationally, normally does not exit the endoplasmic reticulum, but if induced to do so at reduced temperature is short-lived at the surface. We used external epitope-tagged constructs ...

BACKGROUND/AIMS In cystic fibrosis (CF), pancreatic disease begins in utero and progresses over time to complete destruction of the organ. Although inflammatory cells have been detected in the pancreas of humans and pigs with CF, their subtypes have not been characterized. METHODS Using four-color flow cytometry, we analyzed the surface antigens of leukocytes in pancreas, blood, and mesenteri...

In the vast majority of cystic fibrosis (CF) patients, deletion of residue F508 from CFTR is the cause of disease. F508 resides in the first nucleotide binding domain (NBD1) and its absence leads to CFTR misfolding and degradation. We show here that the primary folding defect arises during synthesis, as soon as NBD1 is translated. Introduction of either the I539T or G550E suppressor mutation in...