• 2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA 

      Pantic, Boris; Ives, Daniel; Mennuni, Mara; Perez-Rodriguez, Diego; Fernandez-Pelayo, Uxoa; Lopez de Arbina, Amaia; Muñoz-Oreja, Mikel; Villar-Fernandez, Marina; Dang, Thanh-mai Julie; Vergani, Lodovica; Johnston, Iain George; Pitceathly, Robert D. S.; McFarland, Robert; Hanna, Michael G.; Taylor, Robert W.; Holt, Ian J.; Spinazzola, Antonella (Journal article; Peer reviewed, 2021)
      Pathological variants of human mitochondrial DNA (mtDNA) typically co-exist with wild-type molecules, but the factors driving the selection of each are not understood. Because mitochondrial fitness does not favour the ...
    • Defective i⁶A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA 

      Yarham, John W.; Lamichhane, Tek N.; Pyle, Angela; Mattijssen, Sandy; Baruffini, Enrico; Bruni, Francesco; Donnini, Claudia; Vassilev, Alex; He, Langping; Blakely, Emma L.; Griffin, Helen; Santibanez-Koref, Mauro; Bindoff, Laurence; Ferrero, Iliana; Chinnery, Patrick F.; McFarland, Robert; Maraia, Richard J.; Taylor, Robert W. (Peer reviewed; Journal article, 2014-06-05)
      Identifying the genetic basis for mitochondrial diseases is technically challenging given the size of the mitochondrial proteome and the heterogeneity of disease presentations. Using next-generation exome sequencing, we ...