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- W2783454557 abstract "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). Fumarase assembles into a homotetramer, with four active sites. Interestingly, residues from three of the four subunits within the homotetramer comprise each active site. Hence, any mutation affecting oligomerization is predicted to disrupt enzyme activity." @default.
- W2783454557 created "2018-01-26" @default.
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- W2783454557 date "2018-01-29" @default.
- W2783454557 modified "2023-09-27" @default.
- W2783454557 title "Biochemical Characterization of Two Clinically-Relevant Human Fumarase Variants Defective for Oligomerization" @default.
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- W2783454557 doi "https://doi.org/10.2174/1874091x01812010001" @default.
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