Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.

@article{Erlandsen2004CorrectionOK,
  title={Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.},
  author={H. Erlandsen and A. Pey and A. G{\'a}mez and B. P{\'e}rez and L. Desviat and C. Aguado and R. Koch and S. Surendran and S. Tyring and R. Matalon and C. Scriver and M. Ugarte and A. Mart{\'i}nez and R. Stevens},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2004},
  volume={101 48},
  pages={
          16903-8
        }
}
  • H. Erlandsen, A. Pey, +11 authors R. Stevens
  • Published 2004
  • Chemistry, Medicine
  • Proceedings of the National Academy of Sciences of the United States of America
Phenylketonuria patients harboring a subset of phenylalanine hydroxylase (PAH) mutations have recently shown normalization of blood phenylalanine levels upon oral administration of the PAH cofactor tetrahydrobiopterin [(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4)]. Several hypotheses have been put forward to explain BH4 responsiveness, but the molecular basis for the corrective effect(s) of BH4 has not been understood. We have investigated the biochemical, kinetic, and structural changes… Expand
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