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Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment 

Echevarria Gallego, Aitor; Benito Vicente, Asier; Ostolaza Echabe, Elena Amaya; Martín Plágaro, César Augusto (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 ...
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Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease 

Benito Vicente, Asier; Belloso Uribe, Kepa; Jebari Benslaiman, Shifa; Galicia García, Unai; Ostolaza Echabe, Elena Amaya; Martín Plágaro, César Augusto (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 ...
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Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants 

Benito Vicente, Asier; Belloso Uribe, Kepa; Jebari Benslaiman, Shifa; Galicia García, Unai; Ostolaza Echabe, Elena Amaya; Martín Plágaro, César Augusto (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 ...
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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR 

Galicia García, Unai; Benito Vicente, Asier; Belloso Uribe, Kepa; Jebari Benslaiman, Shifa; Larrea Sebal, Asier; Alonso Estrada, Rocio; Aguilo Arce, Joseba; Ostolaza Echabe, Elena Amaya; Palacios, Lourdes; Martín Plágaro, César Augusto (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 ...
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Replacement of Cysteine at Position 46 in the First Cysteine-Rich Repeat of the LDL Receptor 

Benito Vicente, Asier; Belloso Uribe, Kepa; Siddiqi, Haziq; Jebari Benslaiman, Shifa; Galicia García, Unai; Larrea Sebal, Asier; Cenarro Lagunas, Ana; Stef, M.; Ostolaza Echabe, Elena Amaya; Civeira Murillo, Fernando; Palacios, Lourdes; Martín Plágaro, César Augusto (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 ...
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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 

Banerjee, Poulabi; Chan, Kuo-Chen; Tarabocchia, Michel; Benito Vicente, Asier; Alves, Ana C.; Belloso Uribe, Kepa; Bourbon, Mafalda; Skiba, Paul J.; Pordy, Robert; Gipe, Daniel A.; Gaudet, Daniel; Martín Plágaro, César Augusto (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 ...
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Statin Treatment-Induced Development of Type 2 Diabetes: From Clinical Evidence to Mechanistic Insights 

Galicia García, Unai; Jebari Benslaiman, Shifa; Larrea Sebal, Asier; Belloso Uribe, Kepa; Siddiqi, Haziq; Ostolaza Echabe, Elena Amaya; Benito Vicente, Asier; Martín Plágaro, César Augusto (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, ...
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Cholesterol Efflux Efficiency of Reconstituted HDL Is Affected by Nanoparticle Lipid Composition 

Jebari Benslaiman, Shifa; Belloso Uribe, Kepa; Benito Vicente, Asier; Galicia García, Unai; Larrea-Sebal, Asier; Alloza Moral, Iraide; Vandenbroeck, Koen; Ostolaza Echabe, Elena Amaya; Martín Plágaro, César Augusto (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 ...
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Pathophysiology of Type 2 Diabetes Mellitus 

Galicia Garcia, Unai; Benito Vicente, Asier; Jebari Benslaiman, Shifa; Larrea Sebal, Asier; Siddiqi, Haziq; Belloso Uribe, Kepa; Ostolaza Echabe, Elena Amaya; Martín Plágaro, César Augusto (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 ...
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miR-27b Modulates Insulin Signaling in Hepatocytes by Regulating Insulin Receptor Expression 

Benito Vicente, Asier; Belloso Uribe, Kepa; Rotllan, Noemi; Ramírez, Cristina M.; Jebari Benslaiman, Shifa; Goedeke, Leigh; Canfrán Duque, Alberto; Galicia García, Unai; Sáenz de Urturi, Diego; Aspichueta Celaá, Patricia; Suárez, Yajaira; Fernández Hernando, Carlos; Martín Plágaro, César Augusto (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) ...

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Benito Vicente, Asier (10)
Martín Plágaro, César Augusto (10)Belloso Uribe, Kepa (9)Jebari Benslaiman, Shifa (8)... View MoreDepartamento (cas.)
Bioquímica y biología molecular (10)
Fisiología (1)Departamento (eus.)Biokimika eta biologia molekularra (10)Fisiologia (1)SubjectAGRICULTURAL AND BIOLOGICAL SCIENCES (1)BIOCHEMISTRY AND MOLECULAR BIOLOGY (1)MEDICINE (1)... View MoreDate Issued2020 (5)2019 (1)2018 (3)2014 (1)Language(ISO)eng (10)

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