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Nat Rev Genet. 2001 May;2(5):342-52.

The genetics and pathology of oxidative phosphorylation.

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  • 1Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.


The mitochondrial oxidative phosphorylation (OXPHOS) system is the final biochemical pathway in the production of ATP. The OXPHOS system consists of five multiprotein complexes, the individual subunits of which are encoded either by the mitochondrial or by the nuclear genome. Defects in the OXPHOS system result in devastating, mainly multisystem, diseases, and recent years have seen the description of the underlying genetic mutations in mitochondrial and nuclear genes. Advances in this arena have profited from progress in various genome projects, as well as improvements in our ability to create relevant animal models.

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