Helena
Ostolaza Etxabe
Publicaciones en las que colabora con Helena Ostolaza Etxabe (20)
2022
2021
-
Kukutxeztula: «gainditutako» gaitz baten itzulera
Ekaia: Euskal Herriko Unibertsitateko zientzi eta teknologi aldizkaria, Núm. 39, pp. 61-78
-
MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants
JACC: Basic to Translational Science, Vol. 6, Núm. 11, pp. 815-827
2020
-
Cholesterol efflux efficiency of reconstituted HDL is affected by nanoparticle lipid composition
Biomedicines, Vol. 8, Núm. 10
-
Hiperkolesterolemia Familiarra: patofisiologia, diagnostikoa eta tratamendua
Osagaiz: osasun-zientzien aldizkaria, Vol. 4, Núm. 1, pp. 69-80
-
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR
Scientific reports, Vol. 10, Núm. 1, pp. 1727
-
Pathophysiology of type 2 diabetes mellitus
International Journal of Molecular Sciences, Vol. 21, Núm. 17, pp. 1-34
-
Statin treatment-induced development of type 2 diabetes: From clinical evidence to mechanistic insights
International Journal of Molecular Sciences, Vol. 21, Núm. 13, pp. 1-25
2018
-
Familial hypercholesterolemia: The most frequent cholesterol metabolism disorder caused disease
International Journal of Molecular Sciences, Vol. 19, Núm. 11
-
Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition
PLoS ONE, Vol. 13, Núm. 10
-
Validation of LDLr activity as a tool to improve genetic diagnosis of familial hypercholesterolemia: A retrospective on functional characterization of LDLr variants
International Journal of Molecular Sciences, Vol. 19, Núm. 6
-
p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro
Scientific Reports, Vol. 8, Núm. 1
2017
-
Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene
Atherosclerosis, Vol. 263, pp. 163-170
2016
-
Structural changes induced by acidic pH in human apolipoprotein B-100
Scientific Reports, Vol. 6
-
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
-
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats
Atherosclerosis, Vol. 238, Núm. 2, pp. 304-312
-
Functional characterization and classification of frequent low-density lipoprotein receptor variants
Human Mutation, Vol. 36, Núm. 1, pp. 129-141
-
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
-
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