Biochemical Assays of Respiratory Chain Complex Activity
作者： Denise M. Kirby , David R. Thorburn , Douglass M. Turnbull , Robert W. Taylor
DOI: 10.1016/S0091-679X(06)80004-X
关键词:
摘要: … expressed relative to its activity of citrate synthase. Such ratios are more robust than absolute … The pellet obtained at this stage can be retained; it contains nuclei and some mitochondria …
sci-hub.se 参考文章(50)
Zhiqing Zhu, Jianbo Yao, Timothy Johns, Katherine Fu, Isabelle De Bie, Carol Macmillan, Andrew P. Cuthbert, Robert F. Newbold, Jia-chi Wang, Mario Chevrette, Garry K. Brown, Ruth M. Brown, Eric A. Shoubridge., SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genetics. ,vol. 20, pp. 337- 343 ,(1998) , 10.1038/3804
Mark A. Birch-Machin, Douglass M. Turnbull, Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. Methods in Cell Biology. ,vol. 65, pp. 97- 117 ,(2001) , 10.1016/S0091-679X(01)65006-4
Pascale de Lonlay, Isabelle Valnot, Antoni Barrientos, Marina Gorbatyuk, Alexander Tzagoloff, Jan-Willem Taanman, Emmanuel Benayoun, Dominique Chrétien, Noman Kadhom, Anne Lombès, Hélène Ogier de Baulny, Patrick Niaudet, Arnold Munnich, Pierre Rustin, Agnès Rötig, A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure Nature Genetics. ,vol. 29, pp. 57- 60 ,(2001) , 10.1038/NG706
Sandrine Haut, Michèle Brivet, Guy Touati, Pierre Rustin, Sophie Lebon, Angela Garcia-Cazorla, Jean Marie Saudubray, Audrey Boutron, Alain Legrand, Abdelhamid Slama, A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Human Genetics. ,vol. 113, pp. 118- 122 ,(2003) , 10.1007/S00439-003-0946-0
D. R. Thorburn, J. Smeitink, Diagnosis of mitochondrial disorders: Clinical and biochemical approach Journal of Inherited Metabolic Disease. ,vol. 24, pp. 312- 316 ,(2001) , 10.1023/A:1010347808082
Lefkothea C. Papadopoulou, Carolyn M. Sue, Mercy M. Davidson, Kurenai Tanji, Ichizo Nishino, James E. Sadlock, Sindu Krishna, Winsome Walker, Jeanette Selby, D. Moira Glerum, Rudy Van Coster, Gilles Lyon, Emmanuel Scalais, Roger Lebel, Paige Kaplan, Sara Shanske, Darryl C. De Vivo, Eduardo Bonilla, Michio Hirano, Salvatore DiMauro, Eric A. Schon, Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2 , a COX assembly gene Nature Genetics. ,vol. 23, pp. 333- 337 ,(1999) , 10.1038/15513
Hanna Mandel, Raymonde Szargel, Valentina Labay, Orly Elpeleg, Ann Saada, Adel Shalata, Yefim Anbinder, Drora Berkowitz, Corina Hartman, Mila Barak, Staffan Eriksson, Nadine Cohen, The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genetics. ,vol. 29, pp. 337- 341 ,(2001) , 10.1038/NG746
A. Slama, I. Giurgea, D. Debrey, D. Bridoux, P. de Lonlay, P. Levy, D. Chretien, M. Brivet, A. Legrand, P. Rustin, A. Munnich, A. Rötig, Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement Molecular Genetics and Metabolism. ,vol. 86, pp. 462- 465 ,(2005) , 10.1016/J.YMGME.2005.09.006
Thomas Bourgeron, Pierre Rustin, Dominique Chretien, Mark Birch-Machin, Marie Bourgeois, Evani Viegas-Péquignot, Arnold Munnich, Agnès Rötig, Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency Nature Genetics. ,vol. 11, pp. 144- 149 ,(1995) , 10.1038/NG1095-144
Laurence Faivre, Val�rie Cormier-Daire, Dominique Chr�tien, J�rgen Christoph von Kleist-Retzow, Jeanne Amiel, Marc Dommergues, Jean-Marie Saudubray, Yves Dumez, Agn�s R�tig, Pierre Rustin, Arnold Munnich, Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency. Prenatal Diagnosis. ,vol. 20, pp. 732- 737 ,(2000) , 10.1002/1097-0223(200009)20:9<732::AID-PD916>3.0.CO;2-#