Aitor E. Etxebarria

Zamudio, PV 48170, Spain

Last Updated: 09/26/2026

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Found 17 publications

Serological Antibodies against Kidney, Liver, and Spleen Membrane Antigens as Potential Biomarkers in Patients with Immune Disorders.

Serological Antibodies against Kidney, Liver, and Spleen Membrane Antigens as Potential Biomarkers in Patients with Immune Disorders.

Journal: International journal of molecular sciences

Published: December 20, 2023

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

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

Journal: Scientific reports

Published: July 06, 2017

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

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

Journal: Atherosclerosis

Published: March 23, 2017

Structural changes induced by acidic pH in human apolipoprotein B-100.

Structural changes induced by acidic pH in human apolipoprotein B-100.

Journal: Scientific reports

Published: July 07, 2016

The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes.

The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes.

Journal: The Journal of clinical endocrinology and metabolism

Published: March 26, 2016

Characterization of the first PCSK9 gain of function homozygote.

Characterization of the first PCSK9 gain of function homozygote.

Journal: Journal of the American College of Cardiology

Published: June 15, 2015

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Journal: Scientific reports

Published: June 12, 2015

Adenylate Cyclase Toxin promotes bacterial internalisation into non phagocytic cells.

Adenylate Cyclase Toxin promotes bacterial internalisation into non phagocytic cells.

Journal: Scientific reports

Published: February 17, 2015

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 20, 2014

Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.

Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.

Journal: Atherosclerosis

Published: July 23, 2014

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.

Journal: PloS one

Published: July 15, 2014

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

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

Journal: Human mutation

Published: June 20, 2014

Showing 1-12 of 17

Last Updated: 09/26/2026