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Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in phenylalanine hydroxylase (PAH). Over 500 disease-causing mutations have been identified in humans, most of which result in PAH protein misfolding and increased turnover in vivo. The use of pharmacological chaperones to st...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
2008
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2441854/ https://ncbi.nlm.nih.gov/pubmed/18596920 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI34355 |
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