117341 20230519145529.0 doi 10.1016/J.JLR.2021.100062 sideral 126459 ART-2021-126459 eng Chemello K. Lipoprotein metabolism in familial hypercholesterolemia 2021 Access copy available to the general public Unrestricted Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans. It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of circulating LDL-C levels often leading to premature cardiovascular events. In this review, we discuss the clinical phenotypes of heterozygous and homozygous FH, the genetic variants in four genes (LDLR/APOB/PCSK9/LDLRAP1) underpinning the FH phenotype as well as the most recent in vitro experimental approaches used to investigate molecular defects affecting the LDL receptor pathway. In addition, we review perturbations in the metabolism of lipoproteins other than LDL in FH, with a major focus on lipoprotein (a). Finally, we discuss the mode of action and efficacy of many of the currently approved hypocholesterolemic agents used to treat patients with FH, with a special emphasis on the treatment of phenotypically more severe forms of FH. © 2021 THE AUTHORS. info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 6.676 2021 BIOCHEMISTRY & MOLECULAR BIOLOGY 60 / 297 = 0.202 2021 Q1 T1 1.817 2021 Cell Biology 2021 Q1 Biochemistry 2021 Q1 11.0 2021 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion García-Nafría J. Universidad de Zaragoza (orcid)0000-0002-4254-3148 Gallo A. Martín C. Lambert G. Blom D. 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 62 (2021), 100062 [16 pp] J. lipid res. Journal of Lipid Research 0022-2275 2533408 http://zaguan.unizar.es/record/117341/files/texto_completo.pdf Versión publicada 3255061 http://zaguan.unizar.es/record/117341/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:117341 articulos driver 2023-05-18-15:29:02 ARTICLE