Browsing by Author "Davies, Sally J."

Now showing items 1-2 of 2

    • Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders 
      Faundes, Víctor; Newman, William G.; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J.; Demos, Michelle K.; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J.; Rankin, Julia; Robertson, Lisa; Temple, Karen (Cell Press, 2018)
      Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with ...
    • Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine 
      Faúndes Gómez, Víctor Manuel; Jennings, Martin D.; Crilly, Siobhan; Legraie, Sarah; Withers, Sarah E.; Cuvertino, Sara; Davies, Sally J.; Douglas L., Andrew G.; Fry, Andrew E.; Harrison, Victoria; Amiel, Jeanne; Lehalle, Daphné; Newman, William G.; Newkirk, Patricia; Ranells, Judith; Splitt, Miranda; Cross, Laura A.; Saunders, Carol J.; Sullivan, Bonnie R.; Granadillo, Jorge L.; Gordon, Christopher T.; Kasher, Paul R.; Pavitt, Graham D.; Banka, Siddharth (Nature, 2021)
      The structure of proline prevents it from adopting an optimal position for rapid protein synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly conserved eIF5A, the only protein to contain ...