Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models.

@article{Wang2014UnderstandingHC,
  title={Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models.},
  author={Yiting Wang and Joe A. Wrennall and Zhiwei Cai and Hongyu Li and David N Sheppard},
  journal={The international journal of biochemistry & cell biology},
  year={2014},
  volume={52},
  pages={47-57}
}
Defective epithelial ion transport is the hallmark of the life-limiting genetic disease cystic fibrosis (CF). This abnormality is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR), the ATP-binding cassette transporter that functions as a ligand-gated anion channel. Since the identification of the CFTR gene, almost 2000 disease-causing mutations associated with a spectrum of clinical phenotypes have been reported, but the majority remain poorly characterised… CONTINUE READING
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