MAMMALIAN OSMOLYTES and S-NITROSOGLUTATHIONE PROMOTE ∆F508 CFTR PROTEIN MATURATION AND FUNCTION

نویسندگان

  • Marybeth Howard
  • Horst Fischer
  • Jeremie Roux
  • Bento C. Santos
  • Steven R. Gullans
  • Paul H. Yancey
  • William J. Welch
چکیده

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Mammalian osmolytes and S-nitrosoglutathione promote Delta F508 cystic fibrosis transmembrane conductance regulator (CFTR) protein maturation and function.

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Allosteric modulation balances thermodynamic stability and restores function of ΔF508 CFTR.

Most cystic fibrosis is caused by a deletion of a single residue (F508) in CFTR (cystic fibrosis transmembrane conductance regulator) that disrupts the folding and biosynthetic maturation of the ion channel protein. Progress towards understanding the underlying mechanisms and overcoming the defect remains incomplete. Here, we show that the thermal instability of human ΔF508 CFTR channel activit...

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The cystic fibrosis transmembrane conductance regulator (CFTR) epithelial anion channel is a large multidomain membrane protein that matures inefficiently during biosynthesis. Its assembly is further perturbed by the deletion of F508 from the first nucleotide-binding domain (NBD1) responsible for most cystic fibrosis. The mutant polypeptide is recognized by cellular quality control systems and ...

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Misfolding of ΔF508 cystic fibrosis (CF) transmembrane conductance regulator (CFTR) underlies pathology in most CF patients. F508 resides in the first nucleotide-binding domain (NBD1) of CFTR near a predicted interface with the fourth intracellular loop (ICL4). Efforts to identify small molecules that restore function by correcting the folding defect have revealed an apparent efficacy ceiling. ...

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تاریخ انتشار 2003