Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.

@article{Cheung2008MisfoldingOT,
  title={Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.},
  author={Joanne C Cheung and Charles M. Deber},
  journal={Biochemistry},
  year={2008},
  volume={47 6},
  pages={
          1465-73
        }
}
Understanding the structural basis for defects in protein function that underlie protein-based genetic diseases is the fundamental requirement for development of therapies. This situation is epitomized by the cystic fibrosis transmembrane conductance regulator (CFTR)-the gene product known to be defective in CF patients-that appears particularly susceptible to misfolding when its biogenesis is hampered by mutations at critical loci. While the primary CF-related defect in CFTR has been localized… CONTINUE READING
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Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology • 2007