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Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis.
Ashrafian H, O'Flaherty L, Adam J, Steeples V, Chung YL, East P, Vanharanta S, Lehtonen H, Nye E, Hatipoglu E, Miranda M, Howarth K, Shukla D, Troy H, Griffiths J, Spencer-Dene B, Yusuf M, Volpi E, Maxwell PH, Stamp G, Poulsom R, Pugh CW, Costa B, Bardella C, Di Renzo MF, Kotlikoff MI, Launonen V, Aaltonen L, El-Bahrawy M, Tomlinson I, Pollard PJ. Ashrafian H, et al. Cancer Res. 2010 Nov 15;70(22):9153-65. doi: 10.1158/0008-5472.CAN-10-1949. Epub 2010 Oct 26. Cancer Res. 2010. PMID: 20978192
Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling.
Adam J, Hatipoglu E, O'Flaherty L, Ternette N, Sahgal N, Lockstone H, Baban D, Nye E, Stamp GW, Wolhuter K, Stevens M, Fischer R, Carmeliet P, Maxwell PH, Pugh CW, Frizzell N, Soga T, Kessler BM, El-Bahrawy M, Ratcliffe PJ, Pollard PJ. Adam J, et al. Cancer Cell. 2011 Oct 18;20(4):524-37. doi: 10.1016/j.ccr.2011.09.006. Cancer Cell. 2011. PMID: 22014577 Free PMC article.
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
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 VM, Harris AL, Chandra A, Lehtonen HJ, Launonen V, Aaltonen LA, Pugh CW, Mihai R, Trudgian D, Kessler B, Baynes JW, Ratcliffe PJ, Tomlinson IP, Pollard PJ. Bardella C, et al. J Pathol. 2011 Sep;225(1):4-11. doi: 10.1002/path.2932. Epub 2011 Jun 1. J Pathol. 2011. PMID: 21630274
A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia.
Adam J, Yang M, Bauerschmidt C, Kitagawa M, O'Flaherty L, Maheswaran P, Özkan G, Sahgal N, Baban D, Kato K, Saito K, Iino K, Igarashi K, Stratford M, Pugh C, Tennant DA, Ludwig C, Davies B, Ratcliffe PJ, El-Bahrawy M, Ashrafian H, Soga T, Pollard PJ. Adam J, et al. Among authors: o flaherty l. Cell Rep. 2013 May 30;3(5):1440-8. doi: 10.1016/j.celrep.2013.04.006. Epub 2013 May 2. Cell Rep. 2013. PMID: 23643539 Free PMC article.
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency.
Ternette N, Yang M, Laroyia M, Kitagawa M, O'Flaherty L, Wolhulter K, Igarashi K, Saito K, Kato K, Fischer R, Berquand A, Kessler BM, Lappin T, Frizzell N, Soga T, Adam J, Pollard PJ. Ternette N, et al. Among authors: o flaherty l. Cell Rep. 2013 Mar 28;3(3):689-700. doi: 10.1016/j.celrep.2013.02.013. Epub 2013 Mar 14. Cell Rep. 2013. PMID: 23499446 Free PMC article.
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