Listar por autor "Quelle Regaldie, Ana"

Mostrando ítems 1-2 de 2

    • A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype 

      Quelle Regaldie, Ana; Folgueira, Mónica; Yáñez, Julián; Sobrido Cameán, Daniel; Alba-González, Anabel; Barreiro-Iglesias, Antón; Sobrido, María-Jesús; Sánchez Piñón, Laura (MDPI, 2022)
      [Abstract] NOP56 belongs to a C/D box small nucleolar ribonucleoprotein complex that is in charge of cleavage and modification of precursor ribosomal RNAs and assembly of the 60S ribosomal subunit. An intronic expansion ...

    • Severe Neurometabolic Phenotype in NPC1−/− Zebrafish With a C-Terminal Mutation 

      Quelle Regaldie, Ana; Gandoy-Fieiras, Nerea; Villamayor, Paula R.; Maceiras, Sandra; Losada, Ana; Folgueira, Mónica; Cabezas Sáinz, Pablo; Barreiro-Iglesias, Antón; Villar López, María; Quiroga-Berdeal, María Isabel; Sánchez, Laura; Sobrido, María Jesús (Frontiers, 2023-03-17)
      [Abstract] Niemann Pick disease type C (NPC) is an autosomal recessive neurodegenerative lysosomal disorder characterized by an accumulation of lipids in different organs. Clinical manifestations can start at any age and ...