Publicaciones en colaboración con investigadoras/es de Hospital Miguel Servet (7)

2024

  1. OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues

    Advanced Science, Vol. 11, Núm. 13

2022

  1. Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia

    Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 42, Núm. 7, pp. E203-E216

2021

  1. MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants

    JACC: Basic to Translational Science, Vol. 6, Núm. 11, pp. 815-827

2019

  1. The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9

    Atherosclerosis, Vol. 289, pp. 162-172

2018

  1. Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition

    PLoS ONE, Vol. 13, Núm. 10

2016

  1. The p.Leu167del mutation in APOE gene causes autosomal dominant hypercholesterolemia by down-regulation of LDL receptor expression in hepatocytes

    Journal of Clinical Endocrinology and Metabolism, Vol. 101, Núm. 5, pp. 2113-2121

2015

  1. Functional characterization and classification of frequent low-density lipoprotein receptor variants

    Human Mutation, Vol. 36, Núm. 1, pp. 129-141