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Biochemical Characterization of Two Clinically-Relevant Human Fumarase Variants Defective for Oligomerization

BACKGROUND: Fumarase, a significant enzyme of energy metabolism, catalyzes the reversible hydration of fumarate to L-malate. Mutations in the FH gene, encoding human fumarase, are associated with fumarate hydratase deficiency (FHD) and hereditary leiomyomatosis and renal cell cancer (HLRCC). Fumaras...

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Detalles Bibliográficos
Autores principales: Bulku, Artemisa, Weaver, Todd M., Berkmen, Melanie B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Open 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806193/
https://www.ncbi.nlm.nih.gov/pubmed/29456767
http://dx.doi.org/10.2174/1874091X01812010001