Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.

@article{Eudes2005NucleotideBD,
  title={Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.},
  author={Richard Eudes and Pierre Lehn and Claude F{\'e}rec and J. -P. Mornon and Isabelle Callebaut},
  journal={Cellular and Molecular Life Sciences CMLS},
  year={2005},
  volume={62},
  pages={2112-2123}
}
Defective function of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) causes CF, the most frequent lethal inherited disease among the Caucasian population. The structure of this chloride ion channel includes two nucleotide-binding domains (NBDs), whose ATPase activity controls channel gating. Recently, the experimental structures of mouse and human CFTR NBD1 and our model of the human CFTR NBD1/NBD2 heterodimer have provided new insights into specific structural features of… CONTINUE READING

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