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- W2053244885 endingPage "R252" @default.
- W2053244885 startingPage "R244" @default.
- W2053244885 abstract "The maintenance of mitochondrial DNA (mtDNA) is critically dependent upon polymerase-gamma (pol-gamma), encoded by the nuclear gene POLG. Over the last 5 years, it has become clear that mutations of POLG are a major cause of human disease. Secondary mtDNA defects characterize these disorders, with mtDNA depletion, multiple mtDNA deletions or multiple point mutations of mtDNA in clinically affected tissues. The secondary mtDNA defects cause cell and tissue-specific deficiencies of mitochondrial oxidative phosphorylation, leading to organ dysfunction and human disease. Functional genetic variants of POLG are present in up to approximately 0.5% of the general population, and pathogenic mutations have been described in most exons of the gene. Clinically, POLG mutations can present from early neonatal life to late middle age, with a spectrum of phenotypes that includes common neurological disorders such as migraine, epilepsy and Parkinsonism. Transgenic mice and biochemical studies of recombinant mutated proteins are helping to unravel mechanisms of pathogenesis, and patterns are beginning to emerge relating genotype to phenotype." @default.
- W2053244885 created "2016-06-24" @default.
- W2053244885 creator A5013583757 @default.
- W2053244885 creator A5046521304 @default.
- W2053244885 date "2006-10-15" @default.
- W2053244885 modified "2023-09-23" @default.
- W2053244885 title "Mitochondrial DNA polymerase-γ and human disease" @default.
- W2053244885 cites W1535907462 @default.
- W2053244885 cites W1536502843 @default.
- W2053244885 cites W1551996591 @default.
- W2053244885 cites W1576093526 @default.
- W2053244885 cites W1656176238 @default.
- W2053244885 cites W1665535554 @default.
- W2053244885 cites W1966206826 @default.
- W2053244885 cites W1968197570 @default.
- W2053244885 cites W1983386499 @default.
- W2053244885 cites W1985416646 @default.
- W2053244885 cites W1987207427 @default.
- W2053244885 cites W1993103503 @default.
- W2053244885 cites W1993747322 @default.
- W2053244885 cites W1994203444 @default.
- W2053244885 cites W1996126491 @default.
- W2053244885 cites W1999109194 @default.
- W2053244885 cites W2001256046 @default.
- W2053244885 cites W2003594740 @default.
- W2053244885 cites W2010757555 @default.
- W2053244885 cites W2015762546 @default.
- W2053244885 cites W2015802342 @default.
- W2053244885 cites W2017925209 @default.
- W2053244885 cites W2018123683 @default.
- W2053244885 cites W2023572990 @default.
- W2053244885 cites W2024603372 @default.
- W2053244885 cites W2026779731 @default.
- W2053244885 cites W2027956728 @default.
- W2053244885 cites W2029084348 @default.
- W2053244885 cites W2029386258 @default.
- W2053244885 cites W2029707526 @default.
- W2053244885 cites W2030833218 @default.
- W2053244885 cites W2030868673 @default.
- W2053244885 cites W2031782684 @default.
- W2053244885 cites W2032203503 @default.
- W2053244885 cites W2032913442 @default.
- W2053244885 cites W2038255814 @default.
- W2053244885 cites W2040087325 @default.
- W2053244885 cites W2040175583 @default.
- W2053244885 cites W2043458433 @default.
- W2053244885 cites W2044897807 @default.
- W2053244885 cites W2050475204 @default.
- W2053244885 cites W2050868298 @default.
- W2053244885 cites W2056146464 @default.
- W2053244885 cites W2058962018 @default.
- W2053244885 cites W2059453827 @default.
- W2053244885 cites W2059746374 @default.
- W2053244885 cites W2060061148 @default.
- W2053244885 cites W2060852569 @default.
- W2053244885 cites W2065246627 @default.
- W2053244885 cites W2067755033 @default.
- W2053244885 cites W2071116588 @default.
- W2053244885 cites W2072969519 @default.
- W2053244885 cites W2074174132 @default.
- W2053244885 cites W2075878462 @default.
- W2053244885 cites W2077517552 @default.
- W2053244885 cites W2079092178 @default.
- W2053244885 cites W2083682226 @default.
- W2053244885 cites W2085752695 @default.
- W2053244885 cites W2098992864 @default.
- W2053244885 cites W2099248883 @default.
- W2053244885 cites W2102112598 @default.
- W2053244885 cites W2105911051 @default.
- W2053244885 cites W2107324877 @default.
- W2053244885 cites W2110519784 @default.
- W2053244885 cites W2117795149 @default.
- W2053244885 cites W2118939556 @default.
- W2053244885 cites W2122934154 @default.
- W2053244885 cites W2128968369 @default.
- W2053244885 cites W2130588024 @default.
- W2053244885 cites W2131507123 @default.
- W2053244885 cites W2138430885 @default.
- W2053244885 cites W2139144665 @default.
- W2053244885 cites W2146298000 @default.
- W2053244885 cites W2152466837 @default.
- W2053244885 cites W2153029275 @default.
- W2053244885 cites W2154067341 @default.
- W2053244885 cites W2155082475 @default.
- W2053244885 cites W2158743162 @default.
- W2053244885 cites W2159934201 @default.
- W2053244885 cites W2161116308 @default.
- W2053244885 cites W2162880055 @default.
- W2053244885 cites W2166483810 @default.
- W2053244885 cites W2166664098 @default.
- W2053244885 cites W2171666431 @default.
- W2053244885 cites W2172050982 @default.
- W2053244885 cites W2282268388 @default.
- W2053244885 cites W2922395101 @default.
- W2053244885 cites W1973470396 @default.
- W2053244885 doi "https://doi.org/10.1093/hmg/ddl233" @default.
- W2053244885 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16987890" @default.
- W2053244885 hasPublicationYear "2006" @default.