Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia

Authors: Benito-Vicente, Asier, Uribe, Kepa B., Larrea-Sebal, Asier, Palacios, Lourdes, Cenarro, Ana, Calle, Xabier, Galicia-Garcia, Unai, Jebari-Benslaiman, Shifa, Sánchez-Hernández, Rosa M., Stef, Marianne, Lambert, Gilles, Civeira, Fernando, Martín, Cesar

Source: Arteriosclerosis, thrombosis, and vascular biology. 42(7):e203-e216

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195073596.0x000001&indx=1&recIds=ETOCvdc_100195073596.0x000001

Cholangiocarcinoma progression depends on the uptake and metabolization of extracellular lipids

Authors: Ruiz de Gauna, Mikel, Biancaniello, Francesca, González‐Romero, Francisco, Rodrigues, Pedro M., Lapitz, Ainhoa, Gómez‐Santos, Beatriz, Olaizola, Paula, Di Matteo, Sabina, Aurrekoetxea, Igor, Labiano, Ibone, Nieva‐Zuluaga, Ane, Benito‐Vicente, Asier, Perugorria, María J., Apodaka‐Biguri, Maider, Paiva, Nuno A., Sáenz de Urturi, Diego, Buqué, Xabier, Delgado, Igotz, Martín, César, Azkargorta, Mikel, Elortza, Felix, Calvisi, Diego F., Andersen, Jesper B., Alvaro, Domenico, Cardinale, Vincenzo, Bujanda, Luis, Banales, Jesús M., Aspichueta, Patricia

Source: Hepatology. 76(6):1617-1633

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MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants

Authors: Larrea-Sebal, Asier, Benito-Vicente, Asier, Fernandez-Higuero, José A., Jebari-Benslaiman, Shifa, Galicia-Garcia, Unai, Uribe, Kepa B., Cenarro, Ana, Ostolaza, Helena, Civeira, Fernando, Arrasate, Sonia, González-Díaz, Humberto, Martín, César

Source: In JACC: Basic to Translational Science November 2021 6(11):815-827

LDLR variants functional characterization: Contribution to variant classification

Authors: Alves, Ana Catarina, Azevedo, Sílvia, Benito-Vicente, Asier, Graça, Rafael, Galicia-Garcia, Unai, Barros, Patrícia, Jordan, Peter, Martin, Cesar, Bourbon, Mafalda

Source: In Atherosclerosis July 2021 329:14-21

Molecular mechanisms of lipotoxicity-induced pancreatic β-cell dysfunction

Authors: Benito-Vicente, Asier, Jebari-Benslaiman, Shifa, Galicia-Garcia, Unai, Larrea-Sebal, Asier, Uribe, Kepa B., Martin, Cesar

Source: International review of cell and molecular biology. 359:357-402

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN626855203&indx=1&recIds=ETOCRN626855203

(r)HDL in theranostics: how do we apply HDL's biology for precision medicine in atherosclerosis management?Electronic supplementary information (ESI) available. See DOI: 10.1039/d0bm01838d

Authors: B. Uribe, Kepa, Benito-Vicente, Asier, Martin, Cesar, Blanco-Vaca, Francisco, Rotllan, Noemi

Source: Biomaterials science. 9(9):3185-3208

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120326092.0x000001&indx=1&recIds=ETOCvdc_100120326092.0x000001

Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town

Authors: Huijgen, Roeland, Blom, Dirk J., Hartgers, Merel L., Chemello, Kévin, Benito-Vicente, Asier, Uribe, Kepa B., Behardien, Zorena, Blackhurst, Dee M., Brice, Brigitte C., Defesche, Joep C., de Jong, Annemiek G., Jooste, Rosemary J., Solomon, Gabriele A.E., Wolmarans, Karen H., Hovingh, G. Kees, Martin, Cesar, Lambert, Gilles, Marais, A. David

Source: Arteriosclerosis, thrombosis, and vascular biology. 41(2):934-943

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180891255.0x000001&indx=1&recIds=ETOCvdc_100180891255.0x000001

Advancing Food Packaging: Exploring Cyto-Toxicity of Shape Memory Polyurethanes.

Authors: Veloso-Fernández, Antonio, Laza, José Manuel, Ruiz-Rubio, Leire, Martín, Ane, Benito-Vicente, Asier, Martín, Cesar, Vilas-Vilela, José Luis

Source: Materials (1996-1944); Oct2024, Vol. 17 Issue 19, p4770, 16p

Subject Terms: HEXAMETHYLENE diisocyanate, DYNAMIC mechanical analysis, CASTOR oil, TOLUENE diisocyanate, DIFFERENTIAL scanning calorimetry, POLYURETHANE elastomers, ISOCYANATES

The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9

Authors: Sánchez-Hernández, Rosa M., Di Taranto, Maria Donata, Benito-Vicente, Asier, Uribe, Kepa B., Lamiquiz-Moneo, Itziar, Larrea-Sebal, Asier, Jebari, Shifa, Galicia-Garcia, Unai, Nóvoa, F. Javier, Boronat, Mauro, Wägner, Ana M., Civeira, Fernando, Martín, César, Fortunato, Giuliana

Source: In Atherosclerosis October 2019 289:162-172

Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia

Authors: Alves, Ana Catarina, Benito-Vicente, Asier, Medeiros, Ana Margarida, Reeves, Kaajal, Martin, Cesar, Bourbon, Mafalda

Source: In Atherosclerosis October 2018 277:448-456

Site-specific O-glycosylation of members of the low-density lipoprotein receptor superfamily enhances ligand interactions

Authors: Wang, Shengjun, Mao, Yang, Narimatsu, Yoshiki, Ye, Zilu, Tian, Weihua, Goth, Christoffer K., Lira-Navarrete, Erandi, Pedersen, Nis B., Benito-Vicente, Asier, Martin, Cesar, Uribe, Kepa B., Hurtado-Guerrero, Ramon, Christoffersen, Christina, Seidah, Nabil G. ^**, Nielsen, Rikke, Christensen, Erik I., Hansen, Lars, Bennett, Eric P., Vakhrushev, Sergey Y., Schjoldager, Katrine T., Clausen, Henrik

Source: In Journal of Biological Chemistry 11 May 2018 293(19):7408-7422

Coordinated overexpression of miR-33a and miR-27b induced by statin-treatment contributes to the development of type 2 diabetes mellitus

Authors: Garcia, Unai Galicia, Jebari-Benslaiman, Shifa, Lopez-Ariño, Chuan, Benito-Vicente, Asier, Larrea-Sebal, Asier, Uribe, Kepa Belloso, Gracia-Rubio, Irene, Lagunas, Ana Cenarro, Murillo, Fernando Civeira, Martin, Cesar

Source: In Atherosclerosis August 2024 395 Supplement 1

Optimo-LDLr: An integrated in silico model with enhanced predictive power for LDL receptor variants, unraveling hot spot pathogenic residues

Authors: Larrea-Sebal, Asier, Sasiain, Iñaki, Jebari-Benslaiman, Shifa, Garcia, Unai Galicia, Uribe, Kepa Belloso, Benito-Vicente, Asier, Fernandez, Jorge, Gracia-Rubio, Irene, Arraste, Sonia, Lagunas, Ana Cenarro, Murillo, Fernando Civeira, Gonzalez-Diaz, Humberto, Martin, Cesar

Source: In Atherosclerosis August 2024 395 Supplement 1

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

Authors: Banerjee, Poulabi, Chan, Kuo-Chen, Tarabocchia, Michel, Benito-Vicente, Asier, Alves, Ana C., Uribe, Kepa B., Bourbon, Mafalda, Skiba, Paul J., Pordy, Robert, Gipe, Daniel A., Gaudet, Daniel, Martin, Cesar

Source: Arteriosclerosis, thrombosis, and vascular biology. 39(11):2248-2260

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100091130668.0x000001&indx=1&recIds=ETOCvdc_100091130668.0x000001

Boosting Cholesterol Efflux from Foam Cells by Sequential Administration of rHDL to Deliver MicroRNA and to Remove Cholesterol in a Triple‐Cell 2D Atherosclerosis Model

Authors: Jebari‐Benslaiman, Shifa, Uribe, Kepa B., Benito‐Vicente, Asier, Galicia‐Garcia, Unai, Larrea‐Sebal, Asier, Santin, Izortze, Alloza, Iraide, Vandenbroeck, Koen, Ostolaza, Helena, Martín, César

Source: Small. 18(13)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100167274268.0x000001&indx=1&recIds=ETOCvdc_100167274268.0x000001

Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene

Authors: Jiang, Long, Benito-Vicente, Asier, Tang, Ling, Etxebarria, Aitor, Cui, Wei, Uribe, Kepa B., Pan, Xiao-Dong, Ostolaza, Helena, Yang, Shi-Wei, Zhou, Yu-Jie, Martin, Cesar, Wang, Lu-Ya

Source: In Atherosclerosis August 2017 263:163-170

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia

Authors: Benito-Vicente, Asier, Alves, Ana Catarina, Etxebarria, Aitor, Medeiros, Ana Medeiros, Martin, Cesar, Bourbon, Mafalda

Source: In Genetics in Medicine December 2015 17(12):980-988

The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes

Authors: Cenarro, Ana, Etxebarria, Aitor, de Castro-Orós, Isabel, Stef, Marianne, Bea, Ana M., Palacios, Lourdes, Mateo-Gallego, Rocío, Benito-Vicente, Asier, Ostolaza, Helena, Tejedor, Teresa

Source: Journal of clinical endocrinology and metabolism. 101(5):2113-2121

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN606329189&indx=1&recIds=ETOCRN606329189

Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies.

Authors: Larrea-Sebal, Asier, Jebari-Benslaiman, Shifa, Galicia-Garcia, Unai, Jose-Urteaga, Ane San, Uribe, Kepa B., Benito-Vicente, Asier, Martín, César

Source: Current Atherosclerosis Reports; Nov2023, Vol. 25 Issue 11, p839-859, 21p

Age, Origin and Functional Study of the Prevalent LDLR Mutation Causing Familial Hypercholesterolaemia in Gran Canaria.

Authors: Suárez, Nicolás M., Jebari-Benslaiman, Shifa, Jiménez-Monzón, Roberto, Benito-Vicente, Asier, Brito-Casillas, Yeray, Garcés, Laida, González-Lleo, Ana M., Tugores, Antonio, Boronat, Mauro, Martin, César, Wägner, Ana M., Sánchez-Hernández, Rosa M.

Source: International Journal of Molecular Sciences; Jul2023, Vol. 24 Issue 14, p11319, 12p

Subject Terms: LOW density lipoprotein receptors, SPANISH colonies, GENETIC mutation, ENDOPLASMIC reticulum, HAPLOTYPES

Geographic Terms: GRAN Canaria (Spain), CANARY Islands