A5033263524- Lipoproteins and Cardiovascular Health
- Cancer, Lipids, and Metabolism
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Bacterial Infections and Vaccines
- Lipid Membrane Structure and Behavior
- Animal Genetics and Reproduction
- Liver Disease Diagnosis and Treatment
- Atherosclerosis and Cardiovascular Diseases
- Lipid metabolism and disorders
- Cholesterol and Lipid Metabolism
- MicroRNA in disease regulation
- Genetic factors in colorectal cancer
- Adipose Tissue and Metabolism
- Free Radicals and Antioxidants
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Cell Adhesion Molecules Research
- Protein Kinase Regulation and GTPase Signaling
- RNA Interference and Gene Delivery
- Escherichia coli research studies
- Sphingolipid Metabolism and Signaling
- Estrogen and related hormone effects
- Antioxidant Activity and Oxidative Stress
- Genomics and Rare Diseases
- Liver Disease and Transplantation
University of the Basque Country
2016-2025
Instituto Biofisika
2016-2025
Fundación Biofísica Bizkaia
2016-2025
Hospital Universitario 12 De Octubre
2025
BioCruces Health research Institute
2025
Consejo Superior de Investigaciones Científicas
1990-2024
Osservatorio Astrofisico di Catania
2024
Hospital Universitario Miguel Servet
2023
Centro de Investigación en Red en Enfermedades Cardiovasculares
2023
Instituto de Investigación Sanitaria Aragón
2023
Tat is an 86- to 104-amino-acid viral protein that activates human immunodeficiency virus type 1 expression, modifies several cellular functions, and causes neurotoxicity. Here, we determined the extent which peptide fragments of BRU Tat1-86 produced neurotoxicity, increased levels intracellular calcium ([Ca2+]i), affected neuronal excitability. Tat31-61 but not Tat48-85 dose dependently cytotoxicity [Ca2+]i in cultured fetal brain cells. Similarly, depolarized rat hippocampal CA1 neurons...
Objective: Homozygous familial hypercholesterolemia is a rare disease usually caused by LDLR (low-density lipoprotein receptor) mutations. characterized markedly elevated LDL-C cholesterol) levels and an extremely high risk of premature atherosclerotic cardiovascular disease. A phase 2, proof-of-concept study (NCT02265952) demonstrated that evinacumab, fully human monoclonal antibody to ANGPTL3 (angiopoietin-like 3 protein), reduced in 9 patients with genotypically confirmed homozygous was...
Abstract The antioxidant effects of natural estrogens (estrone E 1 ; 17β‐estradiol), synthetic (17α‐ethynylestradiol, EE 2 mestranol, MES; diethylstilbestrol, DES) and catechle‐strogens (2‐hydroxyestradiol; 4‐hydroxyestradiol 4‐OHE ) on lipid peroxidation induced by different means in rat liver microsomes were investigated. extent was determined measuring thiobarbituric acid reactive substances. Prooxidants included Fe 3+ /ADP/reduced NADPH, 2+ /ascorbate, tert ‐butyl hydroperoxide ( t...
The p.Leu167del mutation in the APOE gene has been associated with hyperlipidemia.Our objective was to determine frequency of subjects autosomal dominant hypercholesterolemia (ADH) whom LDLR, APOB, and PCSK9 mutations had excluded identify mechanisms by which this mutant apo E causes hypercholesterolemia.The analyzed a case-control study.The study conducted at University Hospital Lipid Clinic.Two groups (ADH, 288 patients; control, 220 normolipidemic subjects) were included.We performed...
Abstract Familial hypercholesterolaemia (FH) is characterized by increased circulating low-density lipoprotein (LDL) cholesterol leading to premature atherosclerosis and coronary heart disease. Although FH usually caused mutations in LDLR, APOB PCSK9 also cause but only a few have been reported, p.R3527Q being the most common. However, 30–80% of clinical patients do not present an identifiable mutation any described genes. To identify genetic 65 without or fragments exon 26 29 currently...
The low-density lipoprotein receptor (LDLR) and related receptors are important for the transport of diverse biomolecules across cell membranes barriers. Their functions especially relevant cholesterol homeostasis diseases, including neurodegenerative kidney disorders. Members LDLR-related protein family share LDLR class A (LA) repeats providing binding properties lipoproteins other biomolecules. We previously demonstrated that short linker regions between these LA contain conserved O-glycan...
Peptide hormones and neuropeptides encompass a large class of bioactive peptides that regulate physiological processes like anxiety, blood glucose, appetite, inflammation pressure. Here, we execute focused discovery strategy to provide an extensive map O-glycans on peptide hormones. We find almost one third the 279 classified carry O-glycans. Many identified O-glycosites are conserved predicted serve roles in proprotein processing, receptor interaction, biodistribution biostability....
Hepatic ischemia-reperfusion injury (IRI) is the leading cause of early posttransplantation organ failure as mitochondrial respiration and ATP production are affected. A shortage donors has extended liver donor criteria, including aged or steatotic livers, which more susceptible to IRI. Given lack an effective treatment extensive transplantation waitlist, we aimed at characterizing effects accelerated activity by silencing methylation-controlled J protein (MCJ) in three preclinical models...
Cholangiocarcinoma (CCA) includes a heterogeneous group of biliary cancers with dismal prognosis. We investigated if lipid metabolism is disrupted in CCA and its role tumor proliferation.The vitro vivo tumorigenic capacity five human cell lines was analyzed. Proteome, content, metabolic fluxes were evaluated cells compared normal cholangiocytes (NHC). The Akt1/NOTCH1 intracellular cytoplasmic domain (Nicd1)-driven mouse model also evaluated. proteome enriched pathways involved lipoprotein...
apo (apolipoprotein) E has crucial role in lipid metabolism. The genetic variation APOE gene is associated with monogenic disorders and contributes to polygenic hypercholesterolemia interindividual variability cholesterol. rare variants may be involved the phenotype of hyperlipidemias.Exon 4 were sequenced all consecutive unrelated subjects primary hyperlipidemia from a Lipid Unit (n=3667) 822 random Aragon Workers Health Study. Binding affinity VLDL (very low-density lipoprotein) LDL...
Abstract In pseudohypoparathyroidism (PHP), PTH resistance results from impairment of signal transduction G protein–coupled receptors caused by a deficiency the Gsα-cAMP signaling cascade due to diminished Gsα activity in maternally imprinted tissues. PHP-Ia, inactivating mutations GNAS gene lead haploinsufficiency some tissues with biallelic expression, so addition PHP, Albright's hereditary osteodystrophy (AHO) is also present. PHP-Ib, methylation defects at locus, was thought be limited...
Familial hypercholesterolemia (FH) is an autosomal-dominant disorder mostly caused by mutations in the low-density lipoprotein receptor (LDLR) gene leading to increased risk for premature cardiovascular diseases. According functional studies, LDLR may be classified into five classes. The main objective of this study was characterize seven variants previously detected FH patients. Analysis flow cytometry and confocal microscopy activity demonstrate that all studied are pathogenic. Among...