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

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....

Full description

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

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

Similar Items