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OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues Larrea-Sebal, Asier; Sasiain, Inaki; Jebari-Benslaiman, Shifa; Galicia-Garcia, Unai; Uribe, Kepa B.; Benito-Vicente, Asier; Gracia-Rubio, Irene; Bediaga-Baneres, Harbil; Arrasate, Sonia; Cenarro, Ana; Civeira, Fernando; Gonzalez-Diaz, Humberto; Martin, Cesar 分享 收藏
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Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia Benito-Vicente, Asier; Uribe, Kepa B.; Larrea-Sebal, Asier; Palacios, Lourdes; Cenarro, Ana; Calle, Xabier; Galicia-Garcia, Unai; Jebari-Benslaiman, Shifa; Sanchez-Hernandez, Rosa M.; Stef, Marianne; Lambert, Gilles; Civeira, Fernando; Martin, Cesar 分享 收藏
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 Jebari-Benslaiman, Shifa; Uribe, Kepa B.; Benito-Vicente, Asier; Galicia-Garcia, Unai; Larrea-Sebal, Asier; Santin, Izortze; Alloza, Iraide; Vandenbroeck, Koen; Ostolaza, Helena; Martin, Cesar 分享 收藏
Cholangiocarcinoma progression depends on the uptake and metabolization of extracellular lipids de Gauna, Mikel Ruiz; Biancaniello, Francesca; Gonzalez-Romero, Francisco; Rodrigues, Pedro M.; Lapitz, Ainhoa; Gomez-Santos, Beatriz; Olaizola, Paula; Di Matteo, Sabina; Aurrekoetxea, Igor; Labiano, Ibone; Nieva-Zuluaga, Ane; Benito-Vicente, Asier; Perugorria, Maria J.; Apodaka-Biguri, Maider; Paiva, Nuno A.; de Urturi, Diego Saenz; Buque, Xabier; Delgado, Igotz; Martin, Cesar; Azkargorta, Mikel; Elortza, Felix; Calvisi, Diego F.; Andersen, Jesper B.; Alvaro, Domenico; Cardinale, Vincenzo; Bujanda, Luis; Banales, Jesus M.; Aspichueta, Patricia 分享 收藏
MLb-LDLr A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants Larrea-Sebal, Asier; Benito-Vicente, Asier; Fernandez-Higuero, Jose A.; Jebari-Benslaiman, Shifa; Galicia-Garcia, Unai; Uribe, Kepa B.; Cenarro, Ana; Ostolaza, Helena; Civeira, Fernando; Arrasate, Sonia; Gonzalez-Diaz, Humberto; Martin, Cesar 分享 收藏
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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-Garcia, Unai; Benito-Vicente, Asier; Uribe, Kepa B.; Jebari, Shifa; Larrea-Sebal, Asier; Alonso-Estrada, Rocio; Aguilo-Arce, Joseba; Ostolaza, Helena; Palacios, Lourdes; Martin, Cesar 分享 收藏
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.; Uribe, Kepa B.; Bourbon, Mafalda; Skiba, Paul J.; Pordy, Robert; Gipe, Daniel A.; Gaudet, Daniel; Martin, Cesar 分享 收藏
The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9 Sanchez-Hernandez, Rosa M.; Di Taranto, Maria Donata; Benito-Vicente, Asier; Uribe, Kepa B.; Lamiquiz-Moneo, Itziar; Larrea-Sebal, Asier; Jebari, Shifa; Galicia-Garcia, Unai; Javier Novoa, F.; Boronat, Mauro; Wagner, Ana M.; Civeira, Fernando; Martin, Cesar; Fortunato, Giuliana 分享 收藏
Site-specific O-glycosylation of members of the low-density lipoprotein receptor superfamily enhances ligand interactions (vol 293, pg 7408, 2018) 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 分享 收藏
p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro Benito-Vicente, A.; Siddiqi, H.; Uribe, K. B.; Jebari, S.; Galicia-Garcia, U.; Larrea-Sebal, A.; Stef, M.; Ostolaza, H.; Palacios, L.; Martin, C. 分享 收藏
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Site-specific O-glycosylation of members of the low-density lipoprotein receptor superfamily enhances ligand interactions 低密度脂蛋白受体超家族成员的位点特异性O-糖基化增强了配体相互作用 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 分享 收藏
Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia Di Taranto, Maria Donata; Benito-Vicente, Asier; Giacobbe, Carola; Uribe, Kepa Belloso; Rubba, Paolo; Etxebarria, Aitor; Guardamagna, Ornella; Gentile, Marco; Martin, Cesar; Fortunato, Giuliana 分享 收藏
THE LEUCINE STRETCH LENGTH OF PCSK9 SIGNAL PEPTIDE AND ITS ROLE IN DEVELOPMENT OF AUTOSOMAL DOMINANT HYPERCHOLESTEROLAEMIA: UNRAVELLING THE ACTIVITIES OF P.LEU23DEL AND P.LEU22_LEU23DUP VARIANTS Galicia Garcia, Unai; Benito Vicente, Asier; Etxebarria, Aitor; Palacios, Lourdes; Cenarro, Ana; Calle, Xabi; Belloso Uribe, Kepa; Sanchez-Hernandez, Rosa Maria; Stef, Marianne; Lambert, Gilles; Civeira, Fernando; Ostolaza, Helena; Martin, Cesar 分享 收藏
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