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- W2038411609 endingPage "1224" @default.
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- W2038411609 abstract "Mitochondrial DNA is replicated by DNA polymerase γ in concert with accessory proteins such as the mitochondrial DNA helicase, single-stranded DNA binding protein, topoisomerase, and initiating factors. Defects in mitochondrial DNA replication or nucleotide metabolism can cause mitochondrial genetic diseases due to mitochondrial DNA deletions, point mutations, or depletion, which ultimately cause loss of oxidative phosphorylation. These genetic diseases include mitochondrial DNA depletion syndromes such as Alpers or early infantile hepatocerebral syndromes, and mitochondrial DNA deletion disorders, such as progressive external ophthalmoplegia, ataxia-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy. This review focuses on our current knowledge of genetic defects of mitochondrial DNA replication ( POLG, POLG2, C10orf2, and MGME1) that cause instability of mitochondrial DNA and mitochondrial disease." @default.
- W2038411609 created "2016-06-24" @default.
- W2038411609 creator A5075186269 @default.
- W2038411609 date "2014-06-30" @default.
- W2038411609 modified "2023-09-29" @default.
- W2038411609 title "Defects of Mitochondrial DNA Replication" @default.
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- W2038411609 doi "https://doi.org/10.1177/0883073814537380" @default.
- W2038411609 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4146710" @default.
- W2038411609 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24985751" @default.
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