Dalla Rosa, Ilaria Cámara, Yolanda Durigon, Romina F. Moss, Chloe Vidoni, Sara Akman, Gokhan Hunt, Lilian Johnson, Mark A. Grocott, Sarah Wang, Liya R. Thorburn, David Hirano, Michio Poulton, Joanna W. Taylor, Robert Elgar, Greg Martí, Ramon Voshol, Peter J. Holt, Ian Spinazzola, Antonella MPV17 loss of function affects the purine branch of mitochondrial salvage pathway. <p>Representative immunoblot thymidine kinase 2 (TK2) in (<b>A</b>) control and MPV17-mutant fibroblasts in dividing and quiescent cells, and (<b>B</b>) in the liver of wild-type (WT) and knockout (KO) mice. (<b>C</b>) Steady state levels of adenylate kinase 2 and 3 (AK2 and AK3) and Deoxyguanosine Kinase (Dguok) in the liver of wild-type (WT) and knockout (KO) mice. The arrow indicates the Dguok isoform downregulated in KO mouse liver. The samples were from 2 month-old mice unless indicated. (<b>D</b>) AK2, AK3 and DGUOK steady state levels in control and MPV1<i>7</i> mutant fibroblasts in proliferating and quiescent cells. Vinculin, GAPDH, and Tom20 were used as loading control.</p> dNTP levels;Mitochondria MPV 17;mitochondrial DNA loss;MPV 17 deficiency;mitochondrial DNA depletion;dysfunction causes mitochondrial DNA abnormalities;MPV 17 Loss Causes Deoxynucleotide Insufficiency;deoxynucleoside supplementation;Slow DNA Replication;mitochondrial deoxynucleotide homeostasis;mitochondrial genomic instability;DNA copy number;MPV 17 disease models 2016-01-18
    https://plos.figshare.com/articles/figure/_MPV17_loss_of_function_affects_the_purine_branch_of_mitochondrial_salvage_pathway_/1637051
10.1371/journal.pgen.1005779.g007