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...

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Detalles Bibliográficos
Autores principales: Macias, Iratxe, Laín, Ana, Bernardo-Seisdedos, Ganeko, Gil, David, Gonzalez, Esperanza, Falcon-Perez, Juan M., Millet, Oscar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2019
Materias:
Molecular Bases of Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721957/
https://www.ncbi.nlm.nih.gov/pubmed/31300554
http://dx.doi.org/10.1074/jbc.RA119.009367

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721957/
https://www.ncbi.nlm.nih.gov/pubmed/31300554
http://dx.doi.org/10.1074/jbc.RA119.009367

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