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Screening for genetic variants associated with Familial Hypercholesterolemia: unravelling the epigenetic mechanisms leading to statin-induced Type 2 Diabetes Mellitus
(2021-02-26)
La presente Tesis Doctoral tiene como objetivo estudiar como nuevas variantes genéticas de diversos genes inducen el desarrollo de hipercolesterolemia familiar, así como descifrar los mecanismos moleculares detrás de los ...
Identification of substrates for human deubiquitinating enzymes (DUBs): An up-to-date review and a case study for neurodevelopmental disorders
(Elsevier, 2022-12)
Similar to the reversal of kinase-mediated protein phosphorylation by phosphatases, deubiquitinating enzymes (DUBs) oppose the action of E3 ubiquitin ligases and reverse the ubiquitination of proteins. A total of 99 human ...
Potential Benefits and Risks for Soil Health Derived From the Use of Organic Amendments in Agriculture
(MDPI, 2019-09-12)
The use of organic amendments in agriculture is a common practice due to their potential to increase crop productivity and enhance soil health. Indeed, organic amendments of different origin and composition (e.g., animal ...
Determination of the molecular architecture and the mechanism of self-assembly of Dynamin1 protein machine
(2021-03-26)
La Dinamina1 es una GTPasa implicada en el proceso de fisión de membrana durante la endocitosis. Para ello, la Dinamina1 adopta una estructura helicoidal alrededor de los cuellos de membrana. Utilizando la energía de la ...
Towards a new generation of non-cytotoxic shape memory thermoplastic polyurethanes for biomedical applications
(Elsevier, 2022-12)
In recent decades, the technology of polymeric materials used in biomedical applications has been greatly improved, replacing the metals that had been used until now. This change has not only meant an improvement in the ...
Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject
(MDPI, 2023-02-07)
Familial hypercholesterolaemia (FH) is an autosomal dominant dyslipidaemia, characterised by elevated LDL cholesterol (LDL-C) levels in the blood. Three main genes are involved in FH diagnosis: LDL receptor (LDLr), ...
Raman Spectroscopy as a Tool to Study the Pathophysiology of Brain Diseases
(MDPI, 2023-01-25)
The Raman phenomenon is based on the spontaneous inelastic scattering of light, which depends on the molecular characteristics of the dispersant. Therefore, Raman spectroscopy and imaging allow us to obtain direct information, ...
Linoleic acid improves PIEZO2 dysfunction in a mouse model of Angelman Syndrome
(Nature, 2023)
Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability and atypical behaviors. AS results from loss of expression of the E3 ubiquitin-protein ligase UBE3A from the maternal allele in ...
Membrane Repair Mechanisms against Permeabilization by Pore-Forming Toxins
(MDPI, 2018-06-09)
Permeabilization of the plasma membrane represents an important threat for any cell, since it compromises its viability by disrupting cell homeostasis. Numerous pathogenic bacteria produce pore-forming toxins that break ...
Adenylate Cyclase Toxin promotes bacterial internalisation into non phagocytic cells
(Nature Publishing Group, 2015-09-08)
Bordetella pertussis causes whooping cough, a respiratory infectious disease that is the fifth largest cause of vaccine-preventable death in infants. Though historically considered an extracellular pathogen, this bacterium ...