Browsing Artículos by Author "Palacios, Lourdes"

Now showing items 1-3 of 3

    • Thumbnail

      Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats 

      Etxebarria, Aitor; Benito Vicente, Asier; Stef, M.; Ostolaza Echabe, Elena Amaya; Palacios, Lourdes; Martín Plágaro, César Augusto (Elsevier, 2015-02)
      Background: The LDL receptor (LDLR) is a Class I transmembrane protein critical for the clearance of cholesterol-containing lipoprotein particles. The N-terminal domain of the LDLR harbours the ligand-binding domain ...
    • Thumbnail

      Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR 

      Galicia García, Unai; Benito Vicente, Asier; Belloso Uribe, Kepa; Jebari Benslaiman, Shifa; Larrea Sebal, Asier; Alonso Estrada, Rocio; Aguilo Arce, Joseba; Ostolaza Echabe, Elena Amaya; Palacios, Lourdes; Martín Plágaro, César Augusto (Nature, 2020-02-03)
      The primary genetic cause of familial hypercholesterolemia (FH) is related to mutations in the LDLR gene encoding the Low-density Lipoprotein Receptor. LDLR structure is organized in 5 different domains, including an ...
    • Thumbnail

      Replacement of Cysteine at Position 46 in the First Cysteine-Rich Repeat of the LDL Receptor 

      Benito Vicente, Asier; Belloso Uribe, Kepa; Siddiqi, Haziq; Jebari Benslaiman, Shifa; Galicia García, Unai; Larrea Sebal, Asier; Cenarro Lagunas, Ana; Stef, M.; Ostolaza Echabe, Elena Amaya; Civeira Murillo, Fernando; Palacios, Lourdes; Martín Plágaro, César Augusto (Public Library Science, 2018-10-17)
      Background and aims Pathogenic mutations in the Low Density Lipoprotein Receptor gene (LDLR) cause Familial Hypercholesterolemia (FH), one of the most common genetic disorders with a prevalence as high as 1 in 200 in ...