Gene Review:
FH - fumarate hydratase
Homo sapiens
Synonyms:
Fumarase, Fumarate hydratase, mitochondrial, HLRCC, LRCC, MCL, ...
- On the association of succinate dehydrogenase mutations with hereditary paraganglioma. Baysal, B.E. Trends Endocrinol. Metab. (2003)
- Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. Pollard, P.J., Brière, J.J., Alam, N.A., Barwell, J., Barclay, E., Wortham, N.C., Hunt, T., Mitchell, M., Olpin, S., Moat, S.J., Hargreaves, I.P., Heales, S.J., Chung, Y.L., Griffiths, J.R., Dalgleish, A., McGrath, J.A., Gleeson, M.J., Hodgson, S.V., Poulsom, R., Rustin, P., Tomlinson, I.P. Hum. Mol. Genet. (2005)
- The sera from individuals suffering from cutaneous leishmaniasis due to Leishmania brazilensis present antibodies against parasitic conserved proteins, but not their human counterparts. Carmelo, E., Zurita, A.I., Martinez, E., Valladares, B. Parasite (2006)
- Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. Alam, N.A., Olpin, S., Rowan, A., Kelsell, D., Leigh, I.M., Tomlinson, I.P., Weaver, T. The Journal of molecular diagnostics : JMD. (2005)
- Psychometric functions for loudness discomfort and most comfortable loudness levels. Dirks, D.D., Kamm, C. Journal of speech and hearing research. (1976)
- Comparison of pediatric Clarion recipients with and without the electrode positioner. Young, N.M., Grohne, K.M. Otol. Neurotol. (2001)
- The reliability of MCLs with pure tones and damped wave trains. Berger, K.W., Shiplett, L.L. The Journal of auditory research. (1982)
- Genetic relationships among phlebotomine sand flies (Diptera: Psychodidae) in the verrucarum species group. Kreutzer, R.D., Palau, M.T., Morales, A., Ferro, C., Feliciangeli, D., Young, D.G. J. Med. Entomol. (1990)
- Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Tomlinson, I.P., Alam, N.A., Rowan, A.J., Barclay, E., Jaeger, E.E., Kelsell, D., Leigh, I., Gorman, P., Lamlum, H., Rahman, S., Roylance, R.R., Olpin, S., Bevan, S., Barker, K., Hearle, N., Houlston, R.S., Kiuru, M., Lehtonen, R., Karhu, A., Vilkki, S., Laiho, P., Eklund, C., Vierimaa, O., Aittomäki, K., Hietala, M., Sistonen, P., Paetau, A., Salovaara, R., Herva, R., Launonen, V., Aaltonen, L.A. Nat. Genet. (2002)
- Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. Zinn, A.B., Kerr, D.S., Hoppel, C.L. N. Engl. J. Med. (1986)
- HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Isaacs, J.S., Jung, Y.J., Mole, D.R., Lee, S., Torres-Cabala, C., Chung, Y.L., Merino, M., Trepel, J., Zbar, B., Toro, J., Ratcliffe, P.J., Linehan, W.M., Neckers, L. Cancer Cell (2005)
- Mitochondrial mutations in cancer. Brandon, M., Baldi, P., Wallace, D.C. Oncogene (2006)
- Oral medium-dosed metoclopramide versus placebo as highly effective antiemetic prophylaxis in in- and outpatients on noncisplatin chemotherapy. Vogt, C., Hellenbrecht, D., Saller, R., Achtert, G., Brockmann, P., Hausleiter, H. Oncology (1993)
- Treatment of mantle-cell lymphomas with the VAD +/- chlorambucil regimen with or without subsequent high-dose therapy and peripheral blood stem-cell transplantation. Gressin, R., Legouffe, E., Leroux, D., Jacob, M.C., Swiercz, P., Peoch, M., Capdevilla, V., Rossi, J.F., Thyss, A., Sotto, J.J. Ann. Oncol. (1997)
- Reduced-dose cladribine (2-CdA) plus mitoxantrone is effective in the treatment of mantle-cell and low-grade non-Hodgkin's lymphoma. Rummel, M.J., Chow, K.U., Karakas, T., Jäger, E., Mezger, J., von Grünhagen, U., Schalk, K.P., Burkhard, O., Hansmann, M.L., Ritzel, H., Bergmann, L., Hoelzer, D., Mitrou, P.S. Eur. J. Cancer (2002)
- Alternative spliced variants of the alpha-methylacyl-CoA racemase gene and their expression in prostate cancer. Mubiru, J.N., Shen-Ong, G.L., Valente, A.J., Troyer, D.A. Gene (2004)
- Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies. Gross, K.L., Panhuysen, C.I., Kleinman, M.S., Goldhammer, H., Jones, E.S., Nassery, N., Stewart, E.A., Morton, C.C. Genes Chromosomes Cancer (2004)
- Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. Bourgeron, T., Chretien, D., Poggi-Bach, J., Doonan, S., Rabier, D., Letouzé, P., Munnich, A., Rötig, A., Landrieu, P., Rustin, P. J. Clin. Invest. (1994)
- Evidence for a higher glycolytic than oxidative metabolic activity in white matter of rat brain. Morland, C., Henjum, S., Iversen, E.G., Skrede, K.K., Hassel, B. Neurochem. Int. (2007)
- X-ray crystallographic and kinetic correlation of a clinically observed human fumarase mutation. Estévez, M., Skarda, J., Spencer, J., Banaszak, L., Weaver, T.M. Protein Sci. (2002)
- The visualization by affinity electrophoresis of a specific association between the consecutive citric acid cycle enzymes fumarase and malate dehydrogenase. Beeckmans, S., Van Driessche, E., Kanarek, L. Eur. J. Biochem. (1989)
- Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. Vanharanta, S., Pollard, P.J., Lehtonen, H.J., Laiho, P., Sjöberg, J., Leminen, A., Aittomäki, K., Arola, J., Kruhoffer, M., Orntoft, T.F., Tomlinson, I.P., Kiuru, M., Arango, D., Aaltonen, L.A. Hum. Mol. Genet. (2006)
- Gene dosage effect for fumarate hydratase (FH; E.C. 4.2.1.2) in partial trisomy 1. Braunger, R., Kling, H., Krone, W., Schmid, M., Olert, J. Hum. Genet. (1977)
- Mitochondrial import of human and yeast fumarase in live mammalian cells: retrograde translocation of the yeast enzyme is mainly caused by its poor targeting sequence. Singh, B., Gupta, R.S. Biochem. Biophys. Res. Commun. (2006)
- Localization of thioredoxin reductase and thioredoxin in normal human placenta and their protective effect against oxidative stress. Ejima, K., Nanri, H., Toki, N., Kashimura, M., Ikeda, M. Placenta (1999)
- Molecular analysis and prenatal diagnosis of human fumarase deficiency. Coughlin, E.M., Christensen, E., Kunz, P.L., Krishnamoorthy, K.S., Walker, V., Dennis, N.R., Chalmers, R.A., Elpeleg, O.N., Whelan, D., Pollitt, R.J., Ramesh, V., Mandell, R., Shih, V.E. Mol. Genet. Metab. (1998)
- The genetic determination of fumarase isozymes in human tissues. Edwards, Y.H., Hopkinson, D.A. Ann. Hum. Genet. (1979)
- Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Toro, J.R., Nickerson, M.L., Wei, M.H., Warren, M.B., Glenn, G.M., Turner, M.L., Stewart, L., Duray, P., Tourre, O., Sharma, N., Choyke, P., Stratton, P., Merino, M., Walther, M.M., Linehan, W.M., Schmidt, L.S., Zbar, B. Am. J. Hum. Genet. (2003)
- Streptococcus pneumoniae recruits complement factor H through the amino terminus of CbpA. Lu, L., Ma, Y., Zhang, J.R. J. Biol. Chem. (2006)