Aitor Etxebarria - Concepedia

Author

Aitor Etxebarria

University of the Basque Country

Also Known As

A. Etxebarria, A.E. Etxebarria, Aitor Etxebarria

Publications

1.2K

Citations

H-Index

Concepts

All Affiliations

University of the Basque Country Consejo Superior de Investigaciones Científicas Grifols (Spain)National Institute of Health Dr. Ricardo Jorge Instituto Biofisika

About

Aitor Etxebarria is an author at University of the Basque Country specializing in medicine, genetics, and genetic epidemiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	242
2	Natural Sciences	2	2	82
3	Public Health	2	2	90
4	Biochemistry	2	2	67
5	Engineering	1	1	26

Aitor Etxebarria

Publications

1.1K

Citations

H-Index

Page 1

	Year	Citations
Calpain I Induces Cleavage and Release of Apoptosis-inducing Factor from Isolated Mitochondria Brian M. Polster, Gorka Basáñez, Aitor Etxebarria, Journal of Biological Chemistry	2004	427
The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes Ana Cenarro, Aitor Etxebarria, Isabel de Castro-Orós, The Journal of Clinical Endocrinology & Metabolism	2016	96
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia Ana Catarina Alves, Aitor Etxebarria, Anne K. Soutar, Human Molecular Genetics	2013	88
Endophilin B1/Bif-1 Stimulates BAX Activation Independently from Its Capacity to Produce Large Scale Membrane Morphological Rearrangements Aitor Etxebarria, Oihana Terrones, Hirohito Yamaguchi, Journal of Biological Chemistry Protein SecretionSignal TransductionNatural SciencesEndocytic PathwayMolecular Biology	2008	62
Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants Aitor Etxebarria, Asier Benito‐Vicente, Lourdes Palacios, Human Mutation GeneticsGenetic EpidemiologyHyperlipidemiaDisease Gene IdentificationMetabolic Syndrome	2014	47
Functional characterization of splicing and ligand-binding domain variants in the LDL receptor Aitor Etxebarria, Lourdes Palacios, Marianne Stef, Human Mutation	2011	45
The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia Asier Benito‐Vicente, Ana Catarina Alves, Aitor Etxebarria, Genetics in Medicine Metabolic SyndromeGenetic AnalysisFamilial HypercholesterolemiaIntegrated AnalysisLipid Disorder	2015	43
Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia Maria Donata Di Taranto, Asier Benito‐Vicente, Carola Giacobbe, Scientific Reports	2017	41
Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity José Ángel Fernández-Higuero, Aitor Etxebarria, Asier Benito‐Vicente, Scientific Reports	2015	39
Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment Aitor Etxebarria, Asier Benito‐Vicente, Ana Catarina Alves, PLoS ONE	2014	37

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