Encontrados 4 documentos, a visualizar página 1 de 1
Unveiling the Role of APOB Variants in Familial Hypercholesterolemia: Functiona...
Ferreira, Maria Simões; Ramos, Diana; Rato, Inês; Jannes, Cinthia E.; Larrea-Sebal, Asier; Martín, César; Bourbon, Mafalda; Alves, Ana CatarinaFamilial hypercholesterolemia (FH) is a condition characterized by increased LDL cholesterol levels with APOB variants accounting for about 5-10% of FH cases. However, variants in this gene may be more common than initially estimated since the entire APOB gene has only recently started to be sequenced. Although most of the alterations are missense, nonsense variants and small indels in exon 29 were also identif...
Functional Impact Of APOB Variants In Familial Hypercholesterolemia
Ferreira, Maria Simões; Ramos, Diana; Rato, Inês; Jannes, Cinthia E.; Larrea-Sebal, Asier; Martín, César; Bourbon, Mafalda; Alves, Ana CatarinaFamilial hypercholesterolemia (FH) is an inherited condition of lipid metabolism characterized by increased levels of LDL cholesterol, and APOB variants are responsible for 5%-10% of FH cases. The majority of APOB variants are missense, but nonsense variants and small indels in exon 29 were also identified in individuals with FH phenotype and can be the cause of disease. The aim of this project was to study fun...
Truncating APOB Variants Impair LDL Metabolism: Functional Evidence From Bindin...
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 phenot...
Functional characterization of two APOB variants from exon 29 found in individu...
Ferreira, Maria Simões; Alves, Ana Catarina; Larrea-Sebal, Asier; Martín, César; Bourbon, MafaldaFamilial hypercholesterolemia (FH) is an inherited lipid disorder characterized by increased levels of LDL cholesterol. About 5-10% of FH cases occur due to variants in the APOB gene, but these alterations can be a more common cause of FH than expected since most of APOB variants identified is still unknown their effect on the metabolism. The majority of the variants are missense but there are a few nonsense va...