Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin

Phenylalanine hydroxylase (PAH) is a key enzyme in the catabolism of phenylalanine, and mutations in this enzyme cause phenylketonuria (PKU), a genetic disorder that leads to brain damage and mental retardation if untreated. Some patients benefit from supplementation with a synthetic formulation of...

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Enregistré dans:
Détails bibliographiques
Publié dans:Proc Natl Acad Sci U S A
Auteurs principaux: Flydal, Marte Innselset, Alcorlo-Pagés, Martín, Johannessen, Fredrik Gullaksen, Martínez-Caballero, Siseth, Skjærven, Lars, Fernandez-Leiro, Rafael, Martinez, Aurora, Hermoso, Juan A.
Format: Artigo
Langue:Inglês
Publié: National Academy of Sciences 2019
Sujets:
Biological Sciences
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6561269/
https://ncbi.nlm.nih.gov/pubmed/31118288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1902639116
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