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Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability
A significant share of patients with phenylalanine hydroxylase (PAH) deficiency benefits from pharmacological doses of tetrahydrobiopterin (BH(4)), the natural PAH cofactor. Phenylketonuria (PKU) is hypothesized to be a conformational disease, with loss of function due to protein destabilization, an...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2443833/ https://ncbi.nlm.nih.gov/pubmed/18538294 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.05.013 |
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