000117341 001__ 117341 000117341 005__ 20230519145529.0 000117341 0247_ $$2doi$$a10.1016/J.JLR.2021.100062 000117341 0248_ $$2sideral$$a126459 000117341 037__ $$aART-2021-126459 000117341 041__ $$aeng 000117341 100__ $$aChemello K. 000117341 245__ $$aLipoprotein metabolism in familial hypercholesterolemia 000117341 260__ $$c2021 000117341 5060_ $$aAccess copy available to the general public$$fUnrestricted 000117341 5203_ $$aFamilial 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. 000117341 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/ 000117341 590__ $$a6.676$$b2021 000117341 592__ $$a1.817$$b2021 000117341 594__ $$a11.0$$b2021 000117341 591__ $$aBIOCHEMISTRY & MOLECULAR BIOLOGY$$b60 / 297 = 0.202$$c2021$$dQ1$$eT1 000117341 593__ $$aCell Biology$$c2021$$dQ1 000117341 593__ $$aBiochemistry$$c2021$$dQ1 000117341 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion 000117341 700__ $$0(orcid)0000-0002-4254-3148$$aGarcía-Nafría J.$$uUniversidad de Zaragoza 000117341 700__ $$aGallo A. 000117341 700__ $$aMartín C. 000117341 700__ $$aLambert G. 000117341 700__ $$aBlom D. 000117341 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole. 000117341 773__ $$g62 (2021), 100062 [16 pp]$$pJ. lipid res.$$tJournal of Lipid Research$$x0022-2275 000117341 8564_ $$s2533408$$uhttps://zaguan.unizar.es/record/117341/files/texto_completo.pdf$$yVersión publicada 000117341 8564_ $$s3255061$$uhttps://zaguan.unizar.es/record/117341/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada 000117341 909CO $$ooai:zaguan.unizar.es:117341$$particulos$$pdriver 000117341 951__ $$a2023-05-18-15:29:02 000117341 980__ $$aARTICLE