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....

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Vydáno v:	The Journal of pathology Ročník 225; číslo 1; s. 4 - 11
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Chichester, UK John Wiley & Sons, Ltd 01.09.2011 Wiley
Témata:	Adult Aged Animal models Animals Antibodies Biological and medical sciences biomarkers Biomarkers, Tumor - deficiency Biomarkers, Tumor - genetics Biomarkers, Tumor - metabolism Cancer Carcinoma, Renal Cell - diagnosis Carcinoma, Renal Cell - genetics Cysteine Cysts Disease Models, Animal Enzymes Female Fumarate hydratase Fumarate Hydratase - deficiency Fumarate Hydratase - genetics Fumarate Hydratase - metabolism Genetic analysis Genetic Predisposition to Disease Genetic screening Germ-Line Mutation HLRCC Humans immunhistochemistry Immunohistochemistry Investigative techniques, diagnostic techniques (general aspects) Kidney Kidney Neoplasms - diagnosis Kidney Neoplasms - genetics Kidneys Leiomyomatosis - diagnosis Leiomyomatosis - genetics Loss of Heterozygosity Male Medical sciences Metabolites Mice Mice, Knockout Mice, Transgenic Middle Aged mitochondria mouse models Mutation Neoplastic Syndromes, Hereditary - diagnosis Neoplastic Syndromes, Hereditary - genetics Nephrology. Urinary tract diseases Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Prospective Studies renal cancer Sensitivity and Specificity succination Succinic Acid - metabolism Tricarboxylic acid cycle Tumorigenesis Tumors of the urinary system mouse models Animal model Biological marker renal cancer Lyases Mitochondria Genetics Anomaly Kidney disease Human Urinary system disease Enzyme Deficiency succination Rodentia Biological indicator Malignant tumor Protein Fumarate hydratase Vertebrata Anatomic pathology Mammalia Mouse HLRCC Animal Kidney cancer Mutation Carbon-oxygen lyases immunhistochemistry Cancer Hydro-lyases
ISSN:	0022-3417, 1096-9896, 1096-9896
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