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Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia
(Nature, 2017-11)
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by pathogenic variants in genes encoding for LDL receptor (LDLR), Apolipoprotein B and Proprotein convertase subtilisin/kexin type 9 (PCSK9). Among ...
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats
(Elsevier, 2015-02)
Background: The LDL receptor (LDLR) is a Class I transmembrane protein critical for the clearance of cholesterol-containing lipoprotein particles. The N-terminal domain of the LDLR harbours the ligand-binding domain ...
Characterization of the first PCSK9 gain of function homozygote
(Elsevier / American College of Cardiology, 2015-11)
Gain of function (GOF) mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) are a rare cause of familial hypercholesterolemia (FH). We identified a child with a clinical diagnosis of FH with 2 novel putative ...
Irreversible versus repairable membrane poration: differences in permeabilization elicited by Bordetella Adenylate Cyclase Toxin and its hemolysin domain in macrophages
(FEBS Press, 2019-10-24)
Rapid plasma membrane repair in response to pore-forming toxins is crucial for cell survival, but the molecular mechanisms employed by eukaryotic nucleated cells to maintain membrane integrity and the specificities of such ...
The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia
(Nature, 2015-12)
Purpose
Familial hypercholesterolemia (FH) is one of the most common monogenic disorders, and the high concentrations of low-density lipoprotein (LDL) cholesterol presented since birth confers on these patients an increased ...
Pb(II) Induces Scramblase Activation and Ceramide-Domain Generation in Red Blood Cells
(Nature Publishing, 2018-05-10)
The mechanisms of Pb(II) toxicity have been studied in human red blood cells using confocal microscopy, immunolabeling, fluorescence-activated cell sorting and atomic force microscopy. The process follows a sequence of ...
Evaluation of Various Types of Alginate Inks for Light-Mediated Extrusion 3D Printing
(MDPI, 2024-04-04)
Naturally derived biopolymers modifying or combining with other components are excellent candidates to promote the full potential of additive manufacturing in biomedicine, cosmetics, and the food industry. This work aims ...
Extrusion-Based 3D Printing of Photocrosslinkable Chitosan Inks
(MDPI, 2024-02-04)
Photocuring of chitosan has shown great promise in the extrusion-based 3D printing of scaffolds for advanced biomedical and tissue engineering applications. However, the poor mechanical stability of methacrylated chitosan ...
Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies
(Springer Nature, 2023-10)
Purpose of Review Familial hypercholesterolemia (FH) is a hereditary condition characterized by elevated levels of low-
density lipoprotein cholesterol (LDL-C), which increases the risk of cardiovascular disease if left ...
MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants
(Elsevier, 2021-11)
Untreated familial hypercholesterolemia (FH) leads to atherosclerosis and early cardiovascular disease. Mutations in the low-density lipoprotein receptor (LDLr) gene constitute the major cause of FH, and the high number ...