Publications by the researcher in collaboration with Kepa B. Uribe (17)

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

2023

  1. Contribution of APOE Genetic Variants to Dyslipidemia

    Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 43, Núm. 6, pp. 1066-1077

  2. Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies

    Current Atherosclerosis Reports, Vol. 25, Núm. 11, pp. 839-859

2022

  1. Boosting Cholesterol Efflux from Foam Cells by Sequential Administration of rHDL to Deliver MicroRNA and to Remove Cholesterol in a Triple-Cell 2D Atherosclerosis Model

    Small, Vol. 18, Núm. 13

  2. Familial hypercholesterolemia

    Cholesterol: From Chemistry and Biophysics to the Clinic (Elsevier), pp. 501-524

  3. 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. A systematic approach to assess the activity and classification of pcsk9 variants

    International Journal of Molecular Sciences, Vol. 22, Núm. 24

  2. 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

  3. Molecular mechanisms of lipotoxicity-induced pancreatic β-cell dysfunction

    International Review of Cell and Molecular Biology (Elsevier Inc.), pp. 357-402

2020

  1. Cholesterol efflux efficiency of reconstituted HDL is affected by nanoparticle lipid composition

    Biomedicines, Vol. 8, Núm. 10

  2. Hiperkolesterolemia Familiarra: patofisiologia, diagnostikoa eta tratamendua

    Osagaiz: osasun-zientzien aldizkaria, Vol. 4, Núm. 1, pp. 69-80

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

    Scientific reports, Vol. 10, Núm. 1, pp. 1727

  4. Pathophysiology of type 2 diabetes mellitus

    International Journal of Molecular Sciences, Vol. 21, Núm. 17, pp. 1-34

  5. Statin treatment-induced development of type 2 diabetes: From clinical evidence to mechanistic insights

    International Journal of Molecular Sciences, Vol. 21, Núm. 13, pp. 1-25

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

  2. p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro

    Scientific Reports, Vol. 8, Núm. 1