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SDHA is a tumor suppressor gene causing paraganglioma.
Burnichon N, Brière JJ, Libé R, Vescovo L, Rivière J, Tissier F, Jouanno E, Jeunemaitre X, Bénit P, Tzagoloff A, Rustin P, Bertherat J, Favier J, Gimenez-Roqueplo AP. Burnichon N, et al. Among authors: rustin p. Hum Mol Genet. 2010 Aug 1;19(15):3011-20. doi: 10.1093/hmg/ddq206. Epub 2010 May 18. Hum Mol Genet. 2010. PMID: 20484225 Free PMC article.
In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma.
Lussey-Lepoutre C, Bellucci A, Morin A, Buffet A, Amar L, Janin M, Ottolenghi C, Zinzindohoué F, Autret G, Burnichon N, Robidel E, Banting B, Fontaine S, Cuenod CA, Benit P, Rustin P, Halimi P, Fournier L, Gimenez-Roqueplo AP, Favier J, Tavitian B. Lussey-Lepoutre C, et al. Among authors: rustin p. Clin Cancer Res. 2016 Mar 1;22(5):1120-9. doi: 10.1158/1078-0432.CCR-15-1576. Epub 2015 Oct 21. Clin Cancer Res. 2016. PMID: 26490314 Free article.
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.
Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rötig A, Jeunemaitre X. Gimenez-Roqueplo AP, et al. Among authors: rustin p. Am J Hum Genet. 2001 Dec;69(6):1186-97. doi: 10.1086/324413. Epub 2001 Oct 16. Am J Hum Genet. 2001. PMID: 11605159 Free PMC article.
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.
Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Kerlan V, Plouin PF, Rötig A, Jeunemaitre X. Gimenez-Roqueplo AP, et al. Among authors: rustin p. J Clin Endocrinol Metab. 2002 Oct;87(10):4771-4. doi: 10.1210/jc.2002-020525. J Clin Endocrinol Metab. 2002. PMID: 12364472
We have recently shown that an inactivation of the SDHD gene is associated with a complete loss of mitochondrial complex II activity and a stimulation of the angiogenic pathway (Gimenez-Roqueplo, A. P., J. Favier, P. Rustin, J. J. Mourad, P. F. Plouin, …
We have recently shown that an inactivation of the SDHD gene is associated with a complete loss of mitochondrial complex II activity and a s …
The Warburg effect is genetically determined in inherited pheochromocytomas.
Favier J, Brière JJ, Burnichon N, Rivière J, Vescovo L, Benit P, Giscos-Douriez I, De Reyniès A, Bertherat J, Badoual C, Tissier F, Amar L, Libé R, Plouin PF, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP. Favier J, et al. Among authors: rustin p. PLoS One. 2009 Sep 18;4(9):e7094. doi: 10.1371/journal.pone.0007094. PLoS One. 2009. PMID: 19763184 Free PMC article.
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