We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
The genetics and pathology of oxidative phosphorylation.
- Authors
Smeitink, J; van den Heuvel, L; DiMauro, S
- Abstract
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.
- Publication
Nature reviews. Genetics, 2001, Vol 2, Issue 5, p342
- ISSN
1471-0056
- Publication type
Journal Article
- DOI
10.1038/35072063