Browsing Artículos by Author "Chemello, Kevin"

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      A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants 

      Belloso Uribe, Kepa; Chemello, Kevin; Larrea Sebal, Asier; Benito Vicente, Asier; Bourane, Steeve; Jaafar, Ali K.; Lambert, Gilles; Martín Plágaro, César Augusto (MDPI, 2021-12-18)
      Background: Gain of function (GOF) mutations of PCSK9 cause autosomal dominant familial hypercholesterolemia as they reduce the abundance of LDL receptor (LDLR) more efficiently than wild-type PCSK9. In contrast, PCSK9 ...
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      Lipoprotein Metabolism in Familial Hypercholesterolemia 

      Chemello, Kevin; García Nafría, Javier; Gallo, Antonio; Martín Plágaro, César Augusto; Lambert, Gilles; Blom, Dirk (Springer, 2021-03-03)
      Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans. It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of circulating LDL-C levels often leading to ...