Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation.

@article{Dalemans1991AlteredCI,
  title={Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation.},
  author={Wilfried Dalemans and Pascal Barbry and Guy Champigny and Sophie Jallat and Karin Dott and Dominique Dreyer and Ronald G. Crystal and Andr{\'e}a Pavirani and J. P. Lecocq and Michel Lazdunski},
  journal={Nature},
  year={1991},
  volume={354 6354},
  pages={526-8}
}
Cystic fibrosis is associated with a defect in epithelial chloride ion transport which is caused by mutations in a membrane protein called CFTR (cystic fibrosis transmembrane conductance regulator). Heterologous expression of CFTR produces cyclicAMP-sensitive Cl(-)-channel activity. Deletion of phenylalanine at amino-acid position 508 in CFTR (delta F508 CFTR) is the most common mutation in cystic fibrosis. It has been proposed that this mutation prevents glycoprotein maturation and its… CONTINUE READING

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