Browsing Bergen Open Research Archive by Author "McFarland, Robert"

Now showing items 1-3 of 3

    • 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 ...

    • Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus 

      De Vries, Maaike C.; Brown, David A.; Allen, Mitchell E.; Bindoff, Laurence; Gorman, Gráinne S.; Karaa, Amel; Keshavan, Nandaki; Lamperti, Costanza; McFarland, Robert; Ng, Yi Shiau; O'Callaghan, Mar; Pitceathly, Robert D. S.; Rahman, Shamima; Russel, Frans G. M.; Varhaug, Kristin Nielsen; Schirris, Tom J. J.; Mancuso, Michelangelo (Journal article; Peer reviewed, 2020)
      Clinical guidance is often sought when prescribing drugs for patients with primary mitochondrial disease. Theoretical considerations concerning drug safety in patients with mitochondrial disease may lead to unnecessary ...