Publicaciones en las que colabora con ELENA AMAYA OSTOLAZA ECHABE (20)

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

2021

  1. Kukutxeztula: «gainditutako» gaitz baten itzulera

    Ekaia: Euskal Herriko Unibertsitateko zientzi eta teknologi aldizkaria, Núm. 39, pp. 61-78

  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

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

2018

  1. Familial hypercholesterolemia: The most frequent cholesterol metabolism disorder caused disease

    International Journal of Molecular Sciences, Vol. 19, Núm. 11

  2. 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

  3. Validation of LDLr activity as a tool to improve genetic diagnosis of familial hypercholesterolemia: A retrospective on functional characterization of LDLr variants

    International Journal of Molecular Sciences, Vol. 19, Núm. 6

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

    Scientific Reports, Vol. 8, Núm. 1

2017

  1. Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene

    Atherosclerosis, Vol. 263, pp. 163-170

2016

  1. Structural changes induced by acidic pH in human apolipoprotein B-100

    Scientific Reports, Vol. 6

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

    Atherosclerosis, Vol. 238, Núm. 2, pp. 304-312

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

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

  3. Hiperkolesterolemia familiarra: LDLR, APOB eta PCSK9-en mutazioen balioztapen funtzionala diagnostiko zehatz baterako.

    I. IkergazteNazioarteko ikerketa euskaraz. Kongresuko artikulu-bilduma: 2015eko maiatzaren 13, 14 eta 15a. Durango, Euskal Herria

  4. Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

    Scientific Reports, Vol. 5

2014

  1. Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment

    PLoS ONE, Vol. 9, Núm. 11