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- W2020985206 endingPage "59" @default.
- W2020985206 startingPage "41" @default.
- W2020985206 abstract "Mitochondria are essential organelles with multiple functions, the most well known being the production of adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). The mitochondrial diseases are defined by impairment of OXPHOS. They are a diverse group of diseases that can present in virtually any tissue in either adults or children. Here we review the main molecular mechanisms of mitochondrial diseases, as presently known. A number of disease-causing genetic defects, either in the nuclear genome or in the mitochondria's own genome, mitochondrial DNA (mtDNA), have been identified. The most classical genetic defect causing mitochondrial disease is a mutation in a gene encoding a structural OXPHOS subunit. However, mitochondrial diseases can also arise through impaired mtDNA maintenance, defects in mitochondrial translation factors, and various more indirect mechanisms. The putative consequences of mitochondrial dysfunction on a cellular level are discussed." @default.
- W2020985206 created "2016-06-24" @default.
- W2020985206 creator A5023082449 @default.
- W2020985206 creator A5061096092 @default.
- W2020985206 date "2011-08-02" @default.
- W2020985206 modified "2023-09-30" @default.
- W2020985206 title "Mechanisms of mitochondrial diseases" @default.
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