Blar i Department of Clinical Medicine på tidsskrift "PLoS Genetics"

Viser treff 1-2 av 2

    • 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 ...

    • Differential transcript usage in the Parkinson’s disease brain 

      Dick, Fiona; Sanchez Nido, Gonzalo; Alves, Guido Werner; Tysnes, Ole-Bjørn; Nilsen, Gry Hilde; Dölle, Christian; Tzoulis, Charalampos (Peer reviewed; Journal article, 2020)
      Studies of differential gene expression have identified several molecular signatures and pathways associated with Parkinson’s disease (PD). The role of isoform switches and differential transcript usage (DTU) remains, ...