Browsing by Subject "Mutations"

Now showing items 1-2 of 2

    • 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 ...
    • Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of ... 
      Gallego, Diana; Leal, Fatima; Gámez, Alejandra; Castro, Margarita; Navarrete, Rosa; Sánchez Lijarcio, Obdulia; Vitoria, Isidro; Bueno Delgado, María; Belanger Quintana, Amaya; Morais, Ana; Pedrón Giner, Consuelo; García, Inmaculada; Campistol, Jaume; Artuch, Rafael; Alcaide, Carlos; Cornejo Espinoza, Verónica; Gil, David; Yahyaoui, Raquel; Desviat, Lourdes R.; Ugarte, Magdalena; Martínez, Aurora; Pérez, Belén (Wiley, 2020)
      Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports the retrospective genetic analysis of a cohort of unsolved cases ...