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Pathophysiology of Type 2 Diabetes Mellitus
(MDPI, 2020-07-30)
Type 2 Diabetes Mellitus (T2DM), one of the most common metabolic disorders, is caused by a combination of two primary factors: defective insulin secretion by pancreatic β-cells and the inability of insulin-sensitive tissues ...
Structural basis for substrate recognition and catalysis of the mycobacterial acyltransferase pata
(2018-02-22)
Los glicolípidos desempeñan un papel central en una variedad de procesos biológicos importantes en todos los organismos vivos. PatA es una aciltransferasa asociada a la membrana implicada en la biosíntesis de fosfatidil- ...
In vitro characterization of LDLR, PCSK9 and APOB variants as a tool to understand molecular aspects of familial hypercholesterolemia and improving genetic diagnosis.
(2018-12-19)
La hipercolesterolemia familiar es una enfermedad genética autosómica dominante que se caracteriza por unos niveles altos de colesterol en plasma. Este colesterol, con el tiempo se acumula en las paredes vasculares y ...
Replacement of Cysteine at Position 46 in the First Cysteine-Rich Repeat of the LDL Receptor
(Public Library Science, 2018-10-17)
Background and aims
Pathogenic mutations in the Low Density Lipoprotein Receptor gene (LDLR) cause Familial Hypercholesterolemia (FH), one of the most common genetic disorders with a prevalence as high as 1 in 200 in ...
The Complex Phosphorylation Patterns That Regulate the Activity of Hsp70 and Its Cochaperones
(MDPI, 2019-08-23)
Proteins must fold into their native structure and maintain it during their lifespan to display the desired activity. To ensure proper folding and stability, and avoid generation of misfolded conformations that can be ...
Characterization of wnt signaling in tamoxifen resistant breast cancer stem/progenitor cells
(2018-12-20)
El tamoxifen, un antagonista de ER, es el tratamiento más común empleado para tratar a pacientes que expresan ER. Las células resistentes a tamoxifen están enriquecidas en células madre/progenitoras. La expresión de WNT1 ...
Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity
(Lippincott Williams & Wilkins, 2019-10-03)
Objective: Homozygous familial hypercholesterolemia is a rare disease usually caused by LDLR (low-density lipoprotein receptor) mutations. Homozygous familial hypercholesterolemia is characterized by markedly elevated LDL-C ...
A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants
(MDPI, 2021-12-18)
Background: Gain of function (GOF) mutations of PCSK9 cause autosomal dominant familial hypercholesterolemia as they reduce the abundance of LDL receptor (LDLR) more efficiently than wild-type PCSK9. In contrast, PCSK9 ...
Identification of proximal SUMO-dependent interactors using SUMO-ID
(Nature Research, 2021-11-18)
[EN]The fast dynamics and reversibility of posttranslational modifications by the ubiquitin family pose significant challenges for research. Here we present SUMO-ID, a technology that merges proximity biotinylation by ...
Tecnología Nomad: Desarrollo y caracterización de biosensores fluorescentes codificados genéticamente para su aplicación en ensayos celulares dirigidos al cribado a gran escala de ligandos de receptor
(2020-07-21)
Biosensores fluorescentes codificados genéticamente-Cribado de compuestos a gran escala-Receptores acoplados a proteínas G-Ensayos celulares multicolores-Segundos mensajerosLa primera fase del desarrollo de nuevos medicamentos ...