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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 ...
Lipoprotein Metabolism in Familial Hypercholesterolemia
(Springer, 2021-03-03)
Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans. It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of circulating LDL-C levels often leading to ...
(r)HDL in Theranostics: How Do We Apply HDL's Biology for Precision Medicine in Atherosclerosis Management?
(Royal Society Of Chemistry, 2021-03-19)
High-density lipoproteins (HDL) are key players in cholesterol metabolism homeostasis since they are responsible for transporting excess cholesterol from peripheral tissues to the liver. Imbalance in this process, due to ...
(r)HDL in theranostics: how do we apply HDL's biology for precision medicine in atherosclerosis management?
(The Royal Society of Chemistry, 2021-05-07)
High-density lipoproteins (HDL) are key players in cholesterol metabolism homeostasis since they are responsible for transporting excess cholesterol from peripheral tissues to the liver. Imbalance in this process, due to ...
Cholesterol stimulates the lytic activity of Adenylate Cyclase Toxin on lipid membranes by promoting toxin oligomerization and formation of pores with a greater effective size
(Wiley, 2021-12)
Several toxins acting on animal cells present different, but specific, interactions with cholesterol. Bordetella pertussis infects the human respiratory tract and causes whooping cough, a highly contagious and resurgent ...