Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.

Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.

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Germline mutations in the FH gene encoding the Krebs cycle enzyme fumarate hydratase predispose to hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. FH-deficient cells and tissues accumulate high levels of fumarate, which may act as an oncometabolite and contribute to tumourigenesis....

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Bibliographic Details
Main Authors: Bardella, C, El-Bahrawy, M, Frizzell, N, Adam, J, Ternette, N, Hatipoglu, E, Howarth, K, O'Flaherty, L, Roberts, I, Turner, G, Taylor, J, Giaslakiotis, K, Macaulay, V, Harris, A, Chandra, A, Lehtonen, H, Launonen, V, Aaltonen, L, Pugh, C, Mihai, R, Trudgian, D, Kessler, B, Baynes, J, Ratcliffe, P, Tomlinson, I
Format: Journal article
Language:English
Published: 2011

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