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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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| Publicado no: | Proc Natl Acad Sci U S A |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2019
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| Assuntos: | |
| Acesso em linha: | 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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