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Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R. Reichold M, et al. Among authors: pugh c. J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13. J Am Soc Nephrol. 2018. PMID: 29654216 Free PMC article.
Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.
Formenti F, Beer PA, Croft QP, Dorrington KL, Gale DP, Lappin TR, Lucas GS, Maher ER, Maxwell PH, McMullin MF, O'Connor DF, Percy MJ, Pugh CW, Ratcliffe PJ, Smith TG, Talbot NP, Robbins PA. Formenti F, et al. FASEB J. 2011 Jun;25(6):2001-11. doi: 10.1096/fj.10-177378. Epub 2011 Mar 9. FASEB J. 2011. PMID: 21389259 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. Among authors: pugh cw. 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: pugh c. 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.
627 results