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

doi:10.1002/path.2932

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Article

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

The Journal of pathology - 1 Sept 2011

Bardella Chiara, El-Bahrawy Mona, Frizzell Norma, Adam Julie, Ternette Nicola, Hatipoglu Emine, Howarth Kimberley, O'Flaherty Linda, Roberts Ian, Turner Gareth, Taylor Jennifer, Giaslakiotis Konstantinos, Macaulay Valentine M, Harris Adrian L, Chandra Ashish, Lehtonen Heli J, Launonen Virpi, Aaltonen Lauri A, Pugh Christopher W, Mihai Radu, Trudgian David, Kessler Benedikt, Baynes John W, Ratcliffe Peter J, Tomlinson Ian P, Pollard Patrick J

Abstract excerpt

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. A recently proposed role for fumarate in the covalent modification of cysteine residues to S-(2-succinyl) cysteine...

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PMID: 21630274
DOI: 10.1002/path.2932

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PRCC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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