Publicaciones en colaboración con investigadores/as de Universidade de Lisboa (8)

2024

  1. Anti-miR-873-5p improves alcohol-related liver disease by enhancing hepatic deacetylation via SIRT1

    JHEP Reports, Vol. 6, Núm. 1

2021

  1. LDLR variants functional characterization: Contribution to variant classification

    Atherosclerosis, Vol. 329, pp. 14-21

2019

  1. Functional analysis of LDLR (low-density lipoprotein receptor) variants in patient lymphocytes to assess the effect of evinacumab in homozygous familial hypercholesterolemia patients with a spectrum of LDLR activity

    Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 39, Núm. 11, pp. 2248-2260

2018

  1. Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia

    Atherosclerosis, Vol. 277, pp. 448-456

2015

  1. 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

  2. The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia

    Genetics in Medicine, Vol. 17, Núm. 12, pp. 980-988

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

  2. Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

    Human Molecular Genetics, Vol. 23, Núm. 7, pp. 1817-1828