Percorrer por autor "Ernaga-Lorea, Ander"
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- Truncating APOB Variants Impair LDL Metabolism: Functional Evidence From Binding StudiesPublication . Ferreira, Maria Simões; Larrea-Sebal, Asier; Martín, César; Apellaniz-Ruiz, Maria; Ernaga-Lorea, Ander; Bourbon, Mafalda; Alves, Ana CatarinaFamilial hypercholesterolaemia ( is a condition caused by pathogenic variants in LDLR APOB or PCSK 9 genes, characterised by high levels of LDL cholesterol and premature cardiovascular disease ( APOB variants account for 5 10 of FH cases, most being due to missense variants however, this can be higher than initially estimated Although truncating variants are typically associated with hypocholesterolaemia phenotype, some have been reported in clinical FH patients and can be the cause of diseaseThis study is part of the PerMedFH project and aimed to functionally characterise four nonsense APOB variants in exon 29 identified in patients with a clinical diagnosis of FH, emphasising on their molecular consequences and possible contribution to the FH phenotype. This study is part of the PerMedFH project and aimed to functionally characterise four nonsense APOB variants in exon 29 identified in patients with a clinical diagnosis of FH, emphasising on their molecular consequences and possible contribution to the FH phenotype