Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.

  title={Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.},
  author={Angel L Pey and Ming Ying and Nunilo Cremades and Adri{\'a}n Vel{\'a}zquez-Campoy and Tanja Scherer and Beat Th{\"o}ny and Javier Sancho and Aurora Martinez},
  journal={The Journal of clinical investigation},
  volume={118 8},
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in phenylalanine hydroxylase (PAH). Over 500 disease-causing mutations have been identified in humans, most of which result in PAH protein misfolding and increased turnover in vivo. The use of pharmacological chaperones to stabilize or promote correct folding of mutant proteins represents a promising new direction in the treatment of misfolding diseases. We performed a high-throughput ligand screen of over 1,000… CONTINUE READING


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