Publicaciones en las que colabora con AITOR ECHEVARRIA GALLEGO (11)

2017

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

    Atherosclerosis, Vol. 263, pp. 163-170

  2. Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia

    Scientific Reports, Vol. 7, Núm. 1

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. Characterization of the First PCSK9 Gain of Function Homozygote

    Journal of the American College of Cardiology

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

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

  4. 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

  5. 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

  6. 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