Nuclear genetic defects of oxidative phosphorylation von SHOUBRIDGE, Eric A

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CHCHD10P80L knock-in zebrafish display a mild ALS-like phenotype von Petel Légaré, Virginie, Harji, Ziyaan A., Rampal, Christian J., Antonicka, Hana, Gurberg, Tyler J.N., Persia, Olivia, Rodríguez, Esteban C., Shoubridge, E.A., Armstrong, Gary A.B.

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Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice von Jenuth, Jack P., Peterson, Alan C., Shoubridge, Eric A.

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Nuclear genetic defects of oxidative phosphorylation von Shoubridge, E A

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The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation von Sasarman, Florin, Antonicka, Hana, Horvath, Rita, Shoubridge, Eric A.

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome von Zhu, Zhiqing, Yao, Jianbo, Johns, Timothy, Fu, Katherine, Bie, Isabelle De, Macmillan, Carol, Cuthbert, Andrew P., Newbold, Robert F., Wang, Jia-chi, Chevrette, Mario, Brown, Garry K., Brown, Ruth M., Shoubridge, Eric A.

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Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome von Oquendo, C E, Antonicka, H, Shoubridge, E A, Reardon, W, Brown, G K

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Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA von Jenuth, Jack P., Peterson, Alan C., Fu, Katherine, Shoubridge, Eric A.

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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency von JAKSCH, M, OGILVIE, I, JIANBO YAO, KORTENHAUS, G, BRESSER, H.-G, GERBITZ, K.-D, SHOUBRIDGE, E. A

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Expression and Functional Analysis of SURF1 in Leigh Syndrome Patients With Cytochrome c Oxidase Deficiency von Yao, Jianbo, Shoubridge, Eric A.

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Systemic microangiopathy in Leber's hereditary optic neuropathy with nt 13708 and nt 3394 mutations von Lach, B, Mount, J, Shoubridge, E, Kosabek-Williams, B, Lee, F, Silva, V

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Gene Shifting: A Novel Therapy for Mitochondrial Myopathy von Taivassalo, Tanja, Fu, Katherine, Johns, Timothy, Arnold, Douglas, Karpati, George, Shoubridge, Eric A.

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Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency von Antonicka, Hana, Ogilvie, Isla, Taivassalo, Tanja, Anitori, Roberto P., Haller, Ronald G., Vissing, John, Kennaway, Nancy G., Shoubridge, Eric A.

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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency von Antonicka, Hana, Leary, Scot C., Guercin, Guy-Hellen, Agar, Jeffrey N., Horvath, Rita, Kennaway, Nancy G., Harding, Cary O., Jaksch, Michaela, Shoubridge, Eric A.

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Mitochondrial DNA segregation in the developing embryo von Shoubridge, Eric A.

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PP03.4 – 2660: Recurrent metabolic crises and mitochondrial encephalocardiomyopathy due to mutations in LRPPRC von Isohanni, P, Linnankivi, T, Honarmand, S, Lapatto, R, Lönnqvist, T, Shoubridge, E, Wartiovaara, A. Suomalainen

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Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects von Taivassalo, Tanja, Shoubridge, Eric A., Chen, Jacqueline, Kennaway, Nancy G., DiMauro, Salvatore, Arnold, Douglas L., Haller, Ronald G.

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Nuclear genetic control of mitochondrial DNA segregation von Battersby, Brendan J., Loredo-Osti, J.C., Shoubridge, Eric A.

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Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF) von Boulet, L, Karpati, G, Shoubridge, E A

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Evolutionary conservation of the clk-1-dependent mechanism of longevity: loss of mclk1 increases cellular fitness and lifespan in mice von Liu, Xingxing, Jiang, Ning, Hughes, Bryan, Bigras, Eve, Shoubridge, Eric, Hekimi, Siegfried

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