Pathophysiology of type 2 diabetes mellitus U Galicia-Garcia, A Benito-Vicente, S Jebari, A Larrea-Sebal, H Siddiqi, ... International journal of molecular sciences 21 (17), 6275, 2020 | 1993 | 2020 |
Pathophysiology of atherosclerosis S Jebari-Benslaiman, U Galicia-García, A Larrea-Sebal, JR Olaetxea, ... International journal of molecular sciences 23 (6), 3346, 2022 | 348 | 2022 |
Familial hypercholesterolemia: the most frequent cholesterol metabolism disorder caused disease A Benito-Vicente, KB Uribe, S Jebari, U Galicia-Garcia, H Ostolaza, ... International journal of molecular sciences 19 (11), 3426, 2018 | 142 | 2018 |
Statin treatment-induced development of type 2 diabetes: from clinical evidence to mechanistic insights U Galicia-Garcia, S Jebari, A Larrea-Sebal, KB Uribe, H Siddiqi, ... International journal of molecular sciences 21 (13), 4725, 2020 | 101 | 2020 |
The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes A Cenarro, A Etxebarria, I de Castro-Orós, M Stef, AM Bea, L Palacios, ... The Journal of Clinical Endocrinology & Metabolism 101 (5), 2113-2121, 2016 | 94 | 2016 |
Functional analysis of LDLR (low-density lipoprotein receptor) variants in patient lymphocytes to assess the effect of evinacumab in homozygous familial hypercholesterolemia … P Banerjee, KC Chan, M Tarabocchia, A Benito-Vicente, AC Alves, ... Arteriosclerosis, Thrombosis, and Vascular Biology 39 (11), 2248-2260, 2019 | 80 | 2019 |
Site-specific O-glycosylation of members of the low-density lipoprotein receptor superfamily enhances ligand interactions S Wang, Y Mao, Y Narimatsu, Z Ye, W Tian, CK Goth, E Lira-Navarrete, ... Journal of Biological Chemistry 293 (19), 7408-7422, 2018 | 65 | 2018 |
Validation of LDLr activity as a tool to improve genetic diagnosis of familial hypercholesterolemia: a retrospective on functional characterization of LDLr variants A Benito-Vicente, KB Uribe, S Jebari, U Galicia-Garcia, H Ostolaza, ... International journal of molecular sciences 19 (6), 1676, 2018 | 59 | 2018 |
Functional Characterization and Classification of Frequent Low‐Density Lipoprotein Receptor Variants A Etxebarria, A Benito‐Vicente, L Palacios, M Stef, A Cenarro, F Civeira, ... Human Mutation 36 (1), 129-141, 2015 | 57 | 2015 |
The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia A Benito-Vicente, AC Alves, A Etxebarria, AM Medeiros, C Martin, ... Genetics in Medicine 17 (12), 980-988, 2015 | 52 | 2015 |
Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia MD Di Taranto, A Benito-Vicente, C Giacobbe, KB Uribe, P Rubba, ... Scientific reports 7 (1), 15282, 2017 | 44 | 2017 |
Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity JA Fernández-Higuero, A Etxebarria, A Benito-Vicente, AC Alves, ... Scientific reports 5 (1), 18184, 2015 | 44 | 2015 |
Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment A Etxebarria, A Benito-Vicente, AC Alves, H Ostolaza, M Bourbon, ... PloS one 9 (11), e112677, 2014 | 44 | 2014 |
Characterization of the First PCSK9 Gain of Function Homozygote AC Alves, A Etxebarria, AM Medeiros, A Benito-Vicente, A Thedrez, ... Journal of the American College of Cardiology 66 (19), 2152-2154, 2015 | 42 | 2015 |
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR U Galicia-Garcia, A Benito-Vicente, KB Uribe, S Jebari, A Larrea-Sebal, ... Scientific Reports 10 (1), 1727, 2020 | 32 | 2020 |
Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia AC Alves, A Benito-Vicente, AM Medeiros, K Reeves, C Martin, ... Atherosclerosis 277, 448-456, 2018 | 32 | 2018 |
Molecular mechanisms of lipotoxicity-induced pancreatic β-cell dysfunction A Benito-Vicente, S Jebari-Benslaiman, U Galicia-Garcia, A Larrea-Sebal, ... International Review of Cell and Molecular Biology 359, 357-402, 2021 | 29 | 2021 |
Visceral leishmaniasis IgG1 rapid monitoring of cure vs. relapse, and potential for diagnosis of post kala-azar dermal leishmaniasis T Marlais, T Bhattacharyya, OP Singh, P Mertens, Q Gilleman, ... Frontiers in cellular and infection microbiology 8, 427, 2018 | 28 | 2018 |
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats A Etxebarria, A Benito-Vicente, M Stef, H Ostolaza, L Palacios, C Martin Atherosclerosis 238 (2), 304-312, 2015 | 27 | 2015 |
The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9 RM Sánchez-Hernández, MD Di Taranto, A Benito-Vicente, KB Uribe, ... Atherosclerosis 289, 162-172, 2019 | 23 | 2019 |