BackBrowsing Artículos by Author "Jebari Benslaiman, Shifa"
Now showing items 1-16 of 16
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Age, Origin and Functional Study of the Prevalent LDLR Mutation Causing Familial Hypercholesterolaemia in Gran Canaria
(MDPI, 2023-07-11)The p.(Tyr400_Phe402del) mutation in the LDL receptor (LDLR) gene is the most frequent cause of familial hypercholesterolaemia (FH) in Gran Canaria. The aim of this study was to determine the age and origin of this prevalent ... -
An atlas of O-linked glycosylation on peptide hormones reveals diverse biological roles
(Nature, 2020-08-20)Peptide hormones and neuropeptides encompass a large class of bioactive peptides that regulate physiological processes like anxiety, blood glucose, appetite, inflammation and blood pressure. Here, we execute a focused ... -
Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia: From Molecular Mechanisms Causing Pathogenicity to New Therapeutic Approaches
(MDPI, 2023-04-21)This Special Issue, “Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia: From Molecular Mechanisms Causing Pathogenicity to New Therapeutic Approaches”, contributes to advancing our knowledge of the ... -
Cholesterol Efflux Efficiency of Reconstituted HDL Is Affected by Nanoparticle Lipid Composition
(MDPI, 2020-09-23)Cardiovascular disease (CVD), the leading cause of mortality worldwide is primarily caused by atherosclerosis, which is promoted by the accumulation of low-density lipoproteins into the intima of large arteries. Multiple ... -
Design and Validation of a Process Based on Cationic Niosomes for Gene Delivery into Novel Urine-Derived Mesenchymal Stem Cells
Vado Ranedo, Yerai
; ; Rosique, Melania; ; Pedraz Muñoz, José Luis ; Jebari Benslaiman, Shifa; Martínez de Pancorbo Gómez, María de los Angeles ; Zarate Sesma, Jon ; Pérez de Nanclares Leal, Guiomar (MDPI, 2021-05-11)
Background: Mesenchymal stem cells (MSCs) are stem cells present in adult tissues. They can be cultured, have great growth capacity, and can differentiate into several cell types. The isolation of urine-derived mesenchymal ... -
Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
(MDPI, 2018-11-01)Cholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol ... -
miR-27b Modulates Insulin Signaling in Hepatocytes by Regulating Insulin Receptor Expression
(MDPI, 2020-11-17)Insulin resistance (IR) is one of the key contributing factors in the development of type 2 diabetes mellitus (T2DM). However, the molecular mechanisms leading to IR are still unclear. The implication of microRNAs (miRNAs) ... -
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 ... -
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR
(Nature, 2020-02-03)The primary genetic cause of familial hypercholesterolemia (FH) is related to mutations in the LDLR gene encoding the Low-density Lipoprotein Receptor. LDLR structure is organized in 5 different domains, including an ... -
OptiMo-LDLr: an integrated In silico model with enhanced predictive power for LDL receptor variants, unraveling hot spot pathogenic residues
(Wiley, 2024-04)Familial hypercholesterolemia (FH) is an inherited metabolic disease affecting cholesterol metabolism, with 90% of cases caused by mutations in the LDL receptor gene (LDLR), primarily missense mutations. This study aims ... -
Pathophysiology of Atherosclerosis
(MDPI, 2022-03-20)Atherosclerosis is the main risk factor for cardiovascular disease (CVD), which is the leading cause of mortality worldwide. Atherosclerosis is initiated by endothelium activation and, followed by a cascade of events ... -
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 ... -
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 ... -
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 ... -
Statin Treatment-Induced Development of Type 2 Diabetes: From Clinical Evidence to Mechanistic Insights
(MDPI, 2020-07-02)Statins are the gold-standard treatment for the prevention of primary and secondary cardiovascular disease, which is the leading cause of mortality worldwide. Despite the safety and relative tolerability of statins, ... -
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants
(MDPI, 2018-06)Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by high blood-cholesterol levels mostly caused by mutations in the low-density lipoprotein receptor (LDLr). With a prevalence as high as ...