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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) ...
Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment
(Public Library Science, 2014-11-11)
Familial hypercholesterolemia (FH) is a common autosomal codominant disease with a frequency of 1:500 individuals in its heterozygous form. The genetic basis of FH is most commonly mutations within the LDLR gene. Assessing ...
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 ...
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 ...
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, ...
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 ...
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 ...
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 ...
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 ...