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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.
Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy.
Joza N, Oudit GY, Brown D, Bénit P, Kassiri Z, Vahsen N, Benoit L, Patel MM, Nowikovsky K, Vassault A, Backx PH, Wada T, Kroemer G, Rustin P, Penninger JM. Joza N, et al. Among authors: rustin p. Mol Cell Biol. 2005 Dec;25(23):10261-72. doi: 10.1128/MCB.25.23.10261-10272.2005. Mol Cell Biol. 2005. PMID: 16287843 Free PMC article.
321 results