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This paper summarizes recent advances in understanding the links between the cell's ability to maintain integrity of its mitochondrial genome and mitochondrial genetic diseases. Human mitochondrial DNA is replicated by the two-subunit DNA polγ- merase γ (pol γ). We investigated the fidelity of DNA replication by pol γ with and without exonucleolytic proofreading and its p55 accessory subunit. Pol...
AbstractImmunohistochemical studies were performed in 18 hyperfunctional parathyroids with oxyphil cell aggregates for the detection of cytochrome-c-oxidase (complex IV of the respiratory chain), mitochondrial DNA polymerase gamma and human mitochondrial transcription factor A (h-mtTFA). Seventy-three oxyphil areas exhibiting a defect of cytochrome-c-oxidase were found. The defect involved both the...
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