dc.contributor.author | Chemello, Kevin | |
dc.contributor.author | García Nafría, Javier | |
dc.contributor.author | Gallo, Antonio | |
dc.contributor.author | Martín Plágaro, César Augusto | |
dc.contributor.author | Lambert, Gilles | |
dc.contributor.author | Blom, Dirk | |
dc.date.accessioned | 2021-04-22T07:54:20Z | |
dc.date.available | 2021-04-22T07:54:20Z | |
dc.date.issued | 2021-03-03 | |
dc.identifier.citation | Journal Of Lipid Research 62 : (2021) // Article ID 100062 | es_ES |
dc.identifier.issn | 1539-7262 | |
dc.identifier.uri | http://hdl.handle.net/10810/51139 | |
dc.description.abstract | 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 invitro 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 | es_ES |
dc.description.sponsorship | K. C. received a scholarship from the European Union (European Regional Development Fund INTERREG V) and the Région Réunion (Saint-Denis, Réunion, France); J. G.-N. is a recipient of a Ramón y Cajal fellowship from the Spanish Ministerio de Ciencia, Innovación y Universidades; A. G. has received a postdoctoral fellowship from the Fondation pour la Recherche Médicale; C. M. has received research grants from the Basque Government Grupos Consolidados IT-1264-19; GL Research Group is funded by the Agence Nationale de la Recherche (Paris, France) Program Grant CHolesterol Personalized Innovation ANR-16-RHUS-0007 and project grant KRINGLE2 ANR-20-CE14-0009 as well as from La Fondation de France (project grant: 00096274) | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Springer | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | CVDs | es_ES |
dc.subject | LDL-C | es_ES |
dc.subject | familial hypercholesterolemia | es_ES |
dc.subject | lipoprotein (a) | es_ES |
dc.subject | lipoproteins | es_ES |
dc.title | Lipoprotein Metabolism in Familial Hypercholesterolemia | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | This is an open access article distributed under the terms of the Creative Commons CC-BY license | es_ES |
dc.rights.holder | Atribución 3.0 España | * |
dc.relation.publisherversion | https://www-sciencedirect-com.ehu.idm.oclc.org/science/article/pii/S0022227521000444 | es_ES |
dc.identifier.doi | 10.1016/j.jlr.2021.100062 | |
dc.departamentoes | Bioquímica y biología molecular | es_ES |
dc.departamentoeu | Biokimika eta biologia molekularra | es_ES |