Cystic Fibrosis F508del Patients Have Apically Localized CFTR in a Reduced Number of Airway Cells

  title={Cystic Fibrosis F508del Patients Have Apically Localized CFTR in a Reduced Number of Airway Cells},
  author={Deborah Penque and Filipa Mendes and Sebastian Beck and Carlos M Farinha and Paula G Pacheco and Paulo Nogueira and Jo{\~a}o Lavinha and Rui Malh{\'o} and Margarida D Amaral},
  journal={Laboratory Investigation},
Present state of knowledge, mostly based on heterologous expression studies, indicates that the cystic fibrosis transmembrane conductance regulator (CFTR) protein bearing the F508del mutation is misprocessed and mislocalized in the cytoplasm, unable to reach the cell surface. Recently, however, it was described that protein levels and localization are similar between F508del and wild-type CFTR in airway and intestinal tissues, but not in the sweat glands. In this study, we used… CONTINUE READING
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