Aitor Etxebarria Gallego-rekin lankidetzan egindako argitalpenak (15)

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. Adenylate Cyclase Toxin promotes bacterial internalisation into non phagocytic cells

    Scientific Reports, Vol. 5

  3. Characterization of the First PCSK9 Gain of Function Homozygote

    Journal of the American College of Cardiology

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

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

  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

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

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

2013

  1. Ca2+ Influx and Tyrosine Kinases Trigger Bordetella Adenylate Cyclase Toxin (ACT) Endocytosis. Cell Physiology and Expression of the CD11b/CD18 Integrin Major Determinants of the Entry Route

    PLoS ONE, Vol. 8, Núm. 9

  2. Calpain-Mediated Processing of Adenylate Cyclase Toxin Generates a Cytosolic Soluble Catalytically Active N-Terminal Domain

    PLoS ONE, Vol. 8, Núm. 6

2012

  1. Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

    Human Mutation, Vol. 33, Núm. 1, pp. 232-243