Article
Molecular basis of mitochondrial DNA disease.
Journal of bioenergetics and biomembranes - 1 Jun 1994
Brown M D, Wallace D C
Abstract excerpt
Mitochondrial ATP production via oxidative phosphorylation (OXPHOS) is essential for normal function and maintenance of human organ systems. Since OXPHOS biogenesis depends on both nuclear- and mitochondrial-encoded gene products, mutations in both genomes can result in impaired electron transport and ATP synthesis, thus causing tissue dysfunction and, ultimately, human disease. Over 30 mitochondrial DNA (mtDNA)...
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