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Page 1
AIF deficiency compromises oxidative phosphorylation.
Vahsen N, Candé C, Brière JJ, Bénit P, Joza N, Larochette N, Mastroberardino PG, Pequignot MO, Casares N, Lazar V, Feraud O, Debili N, Wissing S, Engelhardt S, Madeo F, Piacentini M, Penninger JM, Schägger H, Rustin P, Kroemer G. Vahsen N, et al. Among authors: rustin p. EMBO J. 2004 Nov 24;23(23):4679-89. doi: 10.1038/sj.emboj.7600461. Epub 2004 Nov 4. EMBO J. 2004. PMID: 15526035 Free PMC 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
Processing of the 24 kDa subunit mitochondrial import signal is not required for assembly of functional complex I in Yarrowia lipolytica.
Kerscher S, Bénit P, Abdrakhmanova A, Zwicker K, Rais I, Karas M, Rustin P, Brandt U. Kerscher S, et al. Among authors: rustin p. Eur J Biochem. 2004 Sep;271(17):3588-95. doi: 10.1111/j.0014-2956.2004.04296.x. Eur J Biochem. 2004. PMID: 15317595 Free article.
A small deletion in the second intron of human NDUFV2 (IVS2+5_+8delGTAA) has been shown to cause hypertrophic cardiomyopathy and encephalomyopathy [Benit, P., Beugnot, R., Chretien, D., Giurgea, I., de Lonlay-Debeney, P., Issartel, J.P., Kerscher, S., Rust …
A small deletion in the second intron of human NDUFV2 (IVS2+5_+8delGTAA) has been shown to cause hypertrophic cardiomyopathy and encephalomy …
325 results