dc.contributor.author | Benito Vicente, Asier | |
dc.contributor.author | Belloso Uribe, Kepa | |
dc.contributor.author | Jebari Benslaiman, Shifa | |
dc.contributor.author | Galicia García, Unai | |
dc.contributor.author | Ostolaza Echabe, Elena Amaya | |
dc.contributor.author | Martín Plágaro, César Augusto | |
dc.date.accessioned | 2019-04-01T11:30:14Z | |
dc.date.available | 2019-04-01T11:30:14Z | |
dc.date.issued | 2018-11-01 | |
dc.identifier.citation | International Journal Of Molecular Sciences 19(11) : (2018) // Article ID 3426 | es_ES |
dc.identifier.issn | 1422-0067 | |
dc.identifier.uri | http://hdl.handle.net/10810/32290 | |
dc.description.abstract | Cholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol is mainly acquired from two sources: Dietary cholesterol, which is absorbed in the intestine and, intracellularly synthesized cholesterol that is mainly synthesized in the liver. Once acquired, both are delivered to peripheral tissues in a lipoprotein dependent mechanism. Malfunctioning of cholesterol metabolism is caused by multiple hereditary diseases, including Familial Hypercholesterolemia, Sitosterolemia Type C and Niemann-Pick Type C1. Of these, familial hypercholesterolemia (FH) is a common inherited autosomal co-dominant disorder characterized by high plasma cholesterol levels. Its frequency is estimated to be 1:200 and, if untreated, increases the risk of premature cardiovascular disease. This review aims to summarize the current knowledge on cholesterol metabolism and the relation of FH to cholesterol homeostasis with special focus on the genetics, diagnosis and treatment. | es_ES |
dc.description.sponsorship | This work was supported by ELKARTEK 2016 and the Basque Government (Grupos Consolidados IT849-13). A.B.-V. and S.J. were supported by a grant PIF (2014-2015) and (2018-2021), Gobierno Vasco respectively. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | MDPI | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | cholesterol | es_ES |
dc.subject | metabolism | es_ES |
dc.subject | familial hypercholesterolemia | es_ES |
dc.subject | density-lipoprotein-receptor | es_ES |
dc.subject | sterol-sensing domain | es_ES |
dc.subject | Apo-B mutations | es_ES |
dc.subject | LDL receptor | es_ES |
dc.subject | functional-characterization | es_ES |
dc.subject | intracellular trafficking | es_ES |
dc.subject | chylomicron uptake | es_ES |
dc.subject | ABCA1 expression | es_ES |
dc.subject | EGF-A | es_ES |
dc.subject | PCSK9 | es_ES |
dc.title | Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0). | es_ES |
dc.rights.holder | Atribución 3.0 España | * |
dc.relation.publisherversion | https://www.mdpi.com/1422-0067/19/11/3426 | es_ES |
dc.identifier.doi | 10.3390/ijms19113426 | |
dc.departamentoes | Bioquímica y biología molecular | es_ES |
dc.departamentoeu | Biokimika eta biologia molekularra | es_ES |