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- W2139539971 abstract "Mitochondrial genetic diseases can result from defects in mitochondrial DNA (mtDNA) in the form of deletions, point mutations, or depletion, which ultimately cause loss of oxidative phosphorylation. These mutations may be spontaneous, maternally inherited, or a result of inherited nuclear defects in genes that maintain mtDNA. This review focuses on our current understanding of nuclear gene mutations that produce mtDNA alterations and cause mitochondrial depletion syndrome (MDS), progressive external ophthalmoplegia (PEO), ataxia-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). To date, all of these etiologic nuclear genes fall into one of two categories: genes whose products function directly at the mtDNA replication fork, such as POLG, POLG2, and TWINKLE, or genes whose products supply the mitochondria with deoxynucleotide triphosphate pools needed for DNA replication, such as TK2, DGUOK, TP, SUCLA2, ANT1, and possibly the newly identified MPV17." @default.
- W2139539971 created "2016-06-24" @default.
- W2139539971 creator A5075186269 @default.
- W2139539971 date "2008-02-01" @default.
- W2139539971 modified "2023-10-11" @default.
- W2139539971 title "Inherited Mitochondrial Diseases of DNA Replication" @default.
- W2139539971 cites W1535907462 @default.
- W2139539971 cites W1536502843 @default.
- W2139539971 cites W1551996591 @default.
- W2139539971 cites W1576093526 @default.
- W2139539971 cites W1665535554 @default.
- W2139539971 cites W1965596545 @default.
- W2139539971 cites W1969717978 @default.
- W2139539971 cites W1972301305 @default.
- W2139539971 cites W1983386499 @default.
- W2139539971 cites W1983802831 @default.
- W2139539971 cites W1986368729 @default.
- W2139539971 cites W1986763522 @default.
- W2139539971 cites W1993103503 @default.
- W2139539971 cites W1993747322 @default.
- W2139539971 cites W1994673415 @default.
- W2139539971 cites W1998344938 @default.
- W2139539971 cites W1999109194 @default.
- W2139539971 cites W2001143187 @default.
- W2139539971 cites W2001497180 @default.
- W2139539971 cites W2001614456 @default.
- W2139539971 cites W2002063846 @default.
- W2139539971 cites W2008606982 @default.
- W2139539971 cites W2015762546 @default.
- W2139539971 cites W2016722534 @default.
- W2139539971 cites W2016760427 @default.
- W2139539971 cites W2023998799 @default.
- W2139539971 cites W2025137145 @default.
- W2139539971 cites W2026293800 @default.
- W2139539971 cites W2026779731 @default.
- W2139539971 cites W2029386258 @default.
- W2139539971 cites W2029707526 @default.
- W2139539971 cites W2030833218 @default.
- W2139539971 cites W2031782684 @default.
- W2139539971 cites W2035663444 @default.
- W2139539971 cites W2038833748 @default.
- W2139539971 cites W2044076490 @default.
- W2139539971 cites W2044494908 @default.
- W2139539971 cites W2046749013 @default.
- W2139539971 cites W2048083799 @default.
- W2139539971 cites W2049353085 @default.
- W2139539971 cites W2050475204 @default.
- W2139539971 cites W2053244885 @default.
- W2139539971 cites W2063632204 @default.
- W2139539971 cites W2068456988 @default.
- W2139539971 cites W2071116588 @default.
- W2139539971 cites W2073853724 @default.
- W2139539971 cites W2074174132 @default.
- W2139539971 cites W2077364814 @default.
- W2139539971 cites W2078856489 @default.
- W2139539971 cites W2079092178 @default.
- W2139539971 cites W2083682226 @default.
- W2139539971 cites W2083969161 @default.
- W2139539971 cites W2084997161 @default.
- W2139539971 cites W2085743871 @default.
- W2139539971 cites W2085752695 @default.
- W2139539971 cites W2090774305 @default.
- W2139539971 cites W2095903692 @default.
- W2139539971 cites W2103060047 @default.
- W2139539971 cites W2105911051 @default.
- W2139539971 cites W2107559330 @default.
- W2139539971 cites W2116197652 @default.
- W2139539971 cites W2128078563 @default.
- W2139539971 cites W2128417824 @default.
- W2139539971 cites W2130588024 @default.
- W2139539971 cites W2131507123 @default.
- W2139539971 cites W2138430885 @default.
- W2139539971 cites W2139144665 @default.
- W2139539971 cites W2144944663 @default.
- W2139539971 cites W2146298000 @default.
- W2139539971 cites W2149430724 @default.
- W2139539971 cites W2150564743 @default.
- W2139539971 cites W2152466837 @default.
- W2139539971 cites W2158640665 @default.
- W2139539971 cites W2159934201 @default.
- W2139539971 cites W2163572789 @default.
- W2139539971 cites W2166483810 @default.
- W2139539971 cites W2168034652 @default.
- W2139539971 cites W2168695295 @default.
- W2139539971 cites W2169012376 @default.
- W2139539971 cites W2169143920 @default.
- W2139539971 cites W2171557432 @default.
- W2139539971 cites W2171666431 @default.
- W2139539971 cites W2172050982 @default.
- W2139539971 cites W2922395101 @default.
- W2139539971 cites W4239749856 @default.
- W2139539971 doi "https://doi.org/10.1146/annurev.med.59.053006.104646" @default.
- W2139539971 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2271032" @default.
- W2139539971 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17892433" @default.
- W2139539971 hasPublicationYear "2008" @default.
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