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Hereditary tyrosinemia type I–associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate
More than 100 mutations in the gene encoding fumarylacetoacetate hydrolase (FAH) cause hereditary tyrosinemia type I (HT1), a metabolic disorder characterized by elevated blood levels of tyrosine. Some of these mutations are known to decrease FAH catalytic activity, but the mechanisms of FAH mutatio...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Biol Chem |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society for Biochemistry and Molecular Biology
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6721957/ https://ncbi.nlm.nih.gov/pubmed/31300554 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA119.009367 |
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