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Page 1
Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly.
Journiac N, Gilabert-Juan J, Cipriani S, Benit P, Liu X, Jacquier S, Faivre V, Delahaye-Duriez A, Csaba Z, Hourcade T, Melinte E, Lebon S, Violle-Poirsier C, Oury JF, Adle-Biassette H, Wang ZQ, Mani S, Rustin P, Gressens P, Nardelli J. Journiac N, et al. Among authors: rustin p. Cell Rep. 2020 Apr 14;31(2):107506. doi: 10.1016/j.celrep.2020.03.070. Cell Rep. 2020. PMID: 32294449 Free article.
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
De Lonlay P, Mugnier C, Sanlaville D, Chantrel-Groussard K, Bénit P, Lebon S, Chrétien D, Kadhom N, Saker S, Gyapay G, Romana S, Weissenbach J, Munnich A, Rustin P, Rötig A. De Lonlay P, et al. Among authors: rustin p. Hum Mol Genet. 2002 Dec 15;11(26):3273-81. doi: 10.1093/hmg/11.26.3273. Hum Mol Genet. 2002. PMID: 12471054
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A. Bénit P, et al. Among authors: rustin p. Hum Genet. 2003 May;112(5-6):563-6. doi: 10.1007/s00439-002-0884-2. Epub 2003 Mar 4. Hum Genet. 2003. PMID: 12616398
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.
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Lebon S, Chol M, Benit P, Mugnier C, Chretien D, Giurgea I, Kern I, Girardin E, Hertz-Pannier L, de Lonlay P, Rötig A, Rustin P, Munnich A. Lebon S, et al. Among authors: rustin p. J Med Genet. 2003 Dec;40(12):896-9. doi: 10.1136/jmg.40.12.896. J Med Genet. 2003. PMID: 14684687 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