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

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 (BH(4))]. Several hypotheses have been...

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Publicat a:Proc Natl Acad Sci U S A
Autors principals: Erlandsen, Heidi, Pey, Angel L., Gámez, Alejandra, Pérez, Belén, Desviat, Lourdes R., Aguado, Cristina, Koch, Richard, Surendran, Sankar, Tyring, Stephen, Matalon, Reuben, Scriver, Charles R., Ugarte, Magdalena, Martínez, Aurora, Stevens, Raymond C.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2004
Matèries:
Biological Sciences
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC534739/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15557004/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0407256101
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