The genetics and pathology of oxidative phosphorylation
Copyright policy )The genetics and pathology of oxidative phosphorylation
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.
- University of Chicago United States
- Radboud University Nijmegen Netherlands
- King’s University United States
- Radboud University Nijmegen Medical Centre Netherlands
Muscles, Mitochondrial Myopathies, Genes, Recessive, Inborn errors of metabolism, Stoornissen in de biochemische en functionele ontwikkeling van de nier op kinderleeftijd, DNA, Mitochondrial, Oxidative Phosphorylation, Disturbances in biochemical and functional development of the kidney during childhood., Electron Transport, Phenotype, Mutation, Animals, Humans, Erfelijke stofwisselingsziekten, Molecular Biology
Muscles, Mitochondrial Myopathies, Genes, Recessive, Inborn errors of metabolism, Stoornissen in de biochemische en functionele ontwikkeling van de nier op kinderleeftijd, DNA, Mitochondrial, Oxidative Phosphorylation, Disturbances in biochemical and functional development of the kidney during childhood., Electron Transport, Phenotype, Mutation, Animals, Humans, Erfelijke stofwisselingsziekten, Molecular Biology
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