Publicacions en què col·labora amb Shifa Jebari (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. Age, Origin and Functional Study of the Prevalent LDLR Mutation Causing Familial Hypercholesterolaemia in Gran Canaria

    International Journal of Molecular Sciences, Vol. 24, Núm. 14

  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

2021

  1. Design and validation of a process based on cationic niosomes for gene delivery into novel urine-derived mesenchymal stem cells

    Pharmaceutics, Vol. 13, Núm. 5

  2. MLb-LDLr.xlsx

    figshare

  3. MLb-LDLr.xlsx

    figshare

2020

  1. An atlas of O-linked glycosylation on peptide hormones reveals diverse biological roles

    Nature Communications, Vol. 11, Núm. 1

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

    Biomedicines, Vol. 8, Núm. 10

  3. Hiperkolesterolemia Familiarra: patofisiologia, diagnostikoa eta tratamendua

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

  4. 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

  5. Pathophysiology of type 2 diabetes mellitus

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

  6. 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. 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