Article
OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues.
Advanced science (Weinheim, Baden-Wurttemberg, Germany) - 1 Apr 2024
Larrea-Sebal Asier, Sasiain Iñaki, Jebari-Benslaiman Shifa, Galicia-Garcia Unai, Uribe Kepa B, Benito-Vicente Asier, Gracia-Rubio Irene, Bediaga-Bañeres Harbil, Arrasate Sonia, Cenarro Ana, Civeira Fernando, González-Díaz Humberto, Martín Cesar
Abstract excerpt
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 to integrate six commonly used predictive software to create a new model for predicting LDLR mutation pathogenicity and mapping hot spot residues. Six predictive-software are selected: Polyphen-2,...
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