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Page 1
Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas.
Lussey-Lepoutre C, Bellucci A, Burnichon N, Amar L, Buffet A, Drossart T, Fontaine S, Clement O, Benit P, Rustin P, Groussin L, Meatchi T, Gimenez-Roqueplo AP, Tavitian B, Favier J. Lussey-Lepoutre C, et al. Among authors: rustin p. Eur J Nucl Med Mol Imaging. 2020 Jun;47(6):1510-1517. doi: 10.1007/s00259-019-04633-9. Epub 2019 Dec 13. Eur J Nucl Med Mol Imaging. 2020. PMID: 31834447
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 mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A. Chol M, et al. Among authors: rustin p. J Med Genet. 2003 Mar;40(3):188-91. doi: 10.1136/jmg.40.3.188. J Med Genet. 2003. PMID: 12624137 Free PMC article.
Succinate dehydrogenase deficiency in human.
Brière JJ, Favier J, El Ghouzzi V, Djouadi F, Bénit P, Gimenez AP, Rustin P. Brière JJ, et al. Among authors: rustin p. Cell Mol Life Sci. 2005 Oct;62(19-20):2317-24. doi: 10.1007/s00018-005-5237-6. Cell Mol Life Sci. 2005. PMID: 16143825 Review.
321 results