Gimenez-Roqueplo AP - Search Results

1

Unsuspected task for an old team: succinate, fumarate and other Krebs cycle acids in metabolic remodeling.

Bénit P, Letouzé E, Rak M, Aubry L, Burnichon N, Favier J, Gimenez-Roqueplo AP, Rustin P. Bénit P, et al. Biochim Biophys Acta. 2014 Aug;1837(8):1330-7. doi: 10.1016/j.bbabio.2014.03.013. Epub 2014 Mar 31. Biochim Biophys Acta. 2014. PMID: 24699309 Free article. Review.

2

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. 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.

3

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. J Clin Endocrinol Metab. 2002 Oct;87(10):4771-4. doi: 10.1210/jc.2002-020525. J Clin Endocrinol Metab. 2002. PMID: 12364472

4

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X; COMETE Network. Gimenez-Roqueplo AP, et al. Cancer Res. 2003 Sep 1;63(17):5615-21. Cancer Res. 2003. PMID: 14500403

5

Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.

Favier J, Brière JJ, Strompf L, Amar L, Filali M, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP; PGL.NET Network. Favier J, et al. Horm Res. 2005;63(4):171-9. doi: 10.1159/000084685. Epub 2005 Mar 24. Horm Res. 2005. PMID: 15795514 Free article. Review.

6

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.

Brière JJ, Favier J, Bénit P, El Ghouzzi V, Lorenzato A, Rabier D, Di Renzo MF, Gimenez-Roqueplo AP, Rustin P. Brière JJ, et al. Hum Mol Genet. 2005 Nov 1;14(21):3263-9. doi: 10.1093/hmg/ddi359. Epub 2005 Sep 29. Hum Mol Genet. 2005. PMID: 16195397

7

Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.

Brière JJ, Favier J, Gimenez-Roqueplo AP, Rustin P. Brière JJ, et al. Am J Physiol Cell Physiol. 2006 Dec;291(6):C1114-20. doi: 10.1152/ajpcell.00216.2006. Epub 2006 Jun 7. Am J Physiol Cell Physiol. 2006. PMID: 16760265 Free article. Review.

8

Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.

Cazabat L, Libè R, Perlemoine K, René-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, Bertherat J, Raffin-Sanson ML. Cazabat L, et al. Eur J Endocrinol. 2007 Jul;157(1):1-8. doi: 10.1530/EJE-07-0181. Eur J Endocrinol. 2007. PMID: 17609395

9

Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.

Amar L, Baudin E, Burnichon N, Peyrard S, Silvera S, Bertherat J, Bertagna X, Schlumberger M, Jeunemaitre X, Gimenez-Roqueplo AP, Plouin PF. Amar L, et al. J Clin Endocrinol Metab. 2007 Oct;92(10):3822-8. doi: 10.1210/jc.2007-0709. Epub 2007 Jul 24. J Clin Endocrinol Metab. 2007. PMID: 17652212

10

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

Timmers HJ, Pacak K, Bertherat J, Lenders JW, Duet M, Eisenhofer G, Stratakis CA, Niccoli-Sire P, Tran BH, Burnichon N, Gimenez-Roqueplo AP. Timmers HJ, et al. Clin Endocrinol (Oxf). 2008 Apr;68(4):561-6. doi: 10.1111/j.1365-2265.2007.03086.x. Epub 2007 Oct 31. Clin Endocrinol (Oxf). 2008. PMID: 17973943

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

243 results

Search Page