Browsing by Subject "Intellectual disability"

Now showing items 1-3 of 3

    • Aspectos clínicos, moleculares y farmacológicos en los trastornos asociados a gen 1 del retraso mental del X frágil 
      Pugin Aguayo, Ángela; Faúndes Gómez, Víctor; Santa María Vásquez, Lorena; Curotto Liotta, Bianca; Aliaga Vera, Solange; Salas Aliaga, María Isabel; Soto Reyes, Paula; Bravo, Paulina; Peña, María Ignacia; Alliende Rodríguez, María Angélica (Elsevier, 2017-05)
      Introducción: El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria y se asocia a un amplio espectro de enfermedades en las distintas generaciones de una misma familia. En este ...
    • Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 ... 
      Santa María Vásquez, Lorena; Faúndes Gómez, Víctor; Curotto, Bianca; Morales, Paulina; Morales, Karla; Aliaga, Solange; Pugin, Angela; Alliende, María Angélica (Springer, 2016)
      Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently available to detect SR, but ...
    • 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 ...