Article
Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.
PloS one - 1 Jan 2015
Singh Bhupendra, Owens Kjerstin M, Bajpai Prachi, Desouki Mohamed Mokhtar, Srinivasasainagendra Vinodh, Tiwari Hemant K, Singh Keshav K
Abstract excerpt
Germline mutations in mitochondrial DNA polymerase gamma (POLG1) induce mitochondrial DNA (mtDNA) mutations, depletion, and decrease oxidative phosphorylation. Earlier, we identified somatic mutations in POLG1 and the contribution of these mutations in human cancer. However, a role for germline variations in POLG1 in human cancers is unknown. In this study, we examined a role for disease associated germline...
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