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Li, V. FH Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5528 (accessed on 21 September 2026).
Li V. FH Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5528. Accessed September 21, 2026.
Li, Vivi. "FH Gene" Encyclopedia, https://encyclopedia.pub/entry/5528 (accessed September 21, 2026).
Li, V. (2020, December 25). FH Gene. In Encyclopedia. https://encyclopedia.pub/entry/5528
Li, Vivi. "FH Gene." Encyclopedia. Web. 25 December, 2020.
FH Gene
Edit

Fumarate hydratase

genes

References

  1. Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E,Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ,Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M,MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S,Tomlinson IP. Genetic and functional analyses of FH mutations in multiplecutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer,and fumarate hydratase deficiency. Hum Mol Genet. 2003 Jun 1;12(11):1241-52.
  2. Badeloe S, van Geel M, van Steensel MA, Bastida J, Ferrando J, Steijlen PM,Frank J, Poblete-Gutiérrez P. Diffuse and segmental variants of cutaneousleiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. Exp Dermatol. 2006 Sep;15(9):735-41. Review.
  3. Bayley JP, Launonen V, Tomlinson IP. The FH mutation database: an onlinedatabase of fumarate hydratase mutations involved in the MCUL (HLRCC) tumorsyndrome and congenital fumarase deficiency. BMC Med Genet. 2008 Mar 25;9:20.doi: 10.1186/1471-2350-9-20.
  4. Deschauer M, Gizatullina Z, Schulze A, Pritsch M, Knöppel C, Knape M, Zierz S,Gellerich FN. Molecular and biochemical investigations in fumarase deficiency.Mol Genet Metab. 2006 Jun;88(2):146-52.
  5. King A, Selak MA, Gottlieb E. Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer. Oncogene. 2006 Aug7;25(34):4675-82. Review.
  6. Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, Salovaara R, Herva R, Koivisto PA,Vierimaa O, Aittomäki K, Pukkala E, Launonen V, Aaltonen LA. Increased risk ofcancer in patients with fumarate hydratase germline mutation. J Med Genet. 2006Jun;43(6):523-6.
  7. Lorenzato A, Olivero M, Perro M, Brière JJ, Rustin P, Di Renzo MF. Acancer-predisposing "hot spot" mutation of the fumarase gene creates a dominantnegative protein. Int J Cancer. 2008 Feb 15;122(4):947-51.
  8. Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, deKeyzer Y, Toulhoat H, de Lonlay P. Clinical and biochemical heterogeneityassociated with fumarase deficiency. Hum Mutat. 2011 Sep;32(9):1046-52. doi:10.1002/humu.21534.
  9. Picaud S, Kavanagh KL, Yue WW, Lee WH, Muller-Knapp S, Gileadi O, Sacchettini J, Oppermann U. Structural basis of fumarate hydratase deficiency. J InheritMetab Dis. 2011 Jun;34(3):671-6. doi: 10.1007/s10545-011-9294-8.
  10. Raimundo N, Ahtinen J, Fumić K, Barić I, Remes AM, Renkonen R, Lapatto R,Suomalainen A. Differential metabolic consequences of fumarate hydratase andrespiratory chain defects. Biochim Biophys Acta. 2008 May;1782(5):287-94. doi:10.1016/j.bbadis.2008.01.008.
  11. Ratcliffe PJ. Fumarate hydratase deficiency and cancer: activation of hypoxia signaling? Cancer Cell. 2007 Apr;11(4):303-5.
  12. Sudarshan S, Linehan WM, Neckers L. HIF and fumarate hydratase in renalcancer. Br J Cancer. 2007 Feb 12;96(3):403-7.
  13. Sudarshan S, Pinto PA, Neckers L, Linehan WM. Mechanisms of disease:hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditarykidney cancer. Nat Clin Pract Urol. 2007 Feb;4(2):104-10. Review.
  14. Zeman J, Krijt J, Stratilová L, Hansíková H, Wenchich L, Kmoch S, Chrastina P,Houstek J. Abnormalities in succinylpurines in fumarase deficiency: possible rolein pathogenesis of CNS impairment. J Inherit Metab Dis. 2000 Jun;23(4):371-4.
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