Browsing by Author "fd942402-c2a7-44b5-bb0e-eea22dd96387"

Now showing items 1-4 of 4

    • CK2 inhibition with silmitasertib promotes methuosis-like cell death associated to catastrophic massive ... 
      Silva-Pavez, Eduardo; Villar, Paulina; Trigo, César; Caamaño, Esteban; Niechi, Ignacio; Pérez, Pablo; Muñoz, Juan P.; Aguayo, Francisco; Burzio, Verónica A.; Varas Godoy, Manuel; Castro, Ariel F.; Colombo, María I.; Tapia, Julio C. (Nature Publishing Group, 2019)
      Protein kinase CK2 is a highly conserved and constitutively active Ser/Thr-kinase that phosphorylates a large number of substrates, resulting in increased cell proliferation and survival. A known target of CK2 is Akt, a ...
    • FMR1 mRNA from full mutation alleles is associated with ABC-C-FX scores in males with fragile X syndrome 
      Baker, Emma K.; Arpone, Marta; Kraan, Claudine; Bui, Minh; Rogers, Carolyn; Field, Michael; Bretherton, Lesley; Ling, Ling; Ure, Alexandra; Cohen, Jonathan; Hunter, Matthew F.; Santa María Vásquez, Lorena; Faúndes Gómez, Víctor; Curotto, Bianca; Morales, Paulina; Trigo, César; Salas, Isabel; Alliende Rodríguez, Angélica; Amor, David J.; Godler, David E. (Nature, 2020)
      Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with >= 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated ...
    • Genetic screening to determine an etiologic diagnosis in children with mental retardation Búsqueda de ... 
      Alliende, M. Angélica; Cámpora, Laura; Curotto, Bianca; Toro, Jessica; Valiente, Alf; Castillo, Marcela; Cortés, Fanny; Trigo, César; Alvarado, Cecilia; Silva, Manuel; Carú Marambio, Margarita (2008)
      Mental retardation or intellectual disability affects 2% of the general population, but in 60% to 70% of cases the real cause of this retardation is not known. An early etiologic diagnosis of intellectual disability can ...
    • Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features 
      Baker, Emma K.; Arpone, Marta; Aliaga, Solange M.; Bretherton, Lesley; Kraan, Claudine M.; Bui, Minh; Slater, Howard R.; Ling, Ling; Francis, David; Hunter, Matthew F.; Elliott, Justine; Rogers, Carolyn; Field, Michael; Cohen, Jonathan; Cornish, Kim; Santa María Vásquez, Lorena; Faundes, Víctor; Curotto, Bianca; Morales, Paulina; Trigo, César; Salas, Isabel; Alliende, Angélica M.; Amor, David J.; Godle, David E. (BioMed Central, 2019)
      Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, ...