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 | 2019-03-07T12:00:28Z | |
dc.date.available | 2019-03-07T12:00:28Z | |
dc.date.issued | 2018-06 | |
dc.identifier.citation | International Journal of Molecular Sciences 19(6) : (2018) // Article ID 1676 | es_ES |
dc.identifier.issn | 1422-0067 | |
dc.identifier.uri | http://hdl.handle.net/10810/31910 | |
dc.description.abstract | Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by high blood-cholesterol levels mostly caused by mutations in the low-density lipoprotein receptor (LDLr). With a prevalence as high as 1/200 in some populations, genetic screening for pathogenic LDLr mutations is a cost-effective approach in families classified as definite' or probable' FH and can help to early diagnosis. However, with over 2000 LDLr variants identified, distinguishing pathogenic mutations from benign mutations is a long-standing challenge in the field. In 1998, the World Health Organization (WHO) highlighted the importance of improving the diagnosis and prognosis of FH patients thus, identifying LDLr pathogenic variants is a longstanding challenge to provide an accurate genetic diagnosis and personalized treatments. In recent years, accessible methodologies have been developed to assess LDLr activity in vitro, providing experimental reproducibility between laboratories all over the world that ensures rigorous analysis of all functional studies. In this review we present a broad spectrum of functionally characterized missense LDLr variants identified in patients with FH, which is mandatory for a definite diagnosis of FH. | es_ES |
dc.description.sponsorship | This work was supported by ELKARTEK 2016 and 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 | low density lipoprotein receptor (LDLr) | es_ES |
dc.subject | variants | es_ES |
dc.subject | familial hypercholesterolemia | es_ES |
dc.subject | is silico | es_ES |
dc.subject | in vitro | es_ES |
dc.subject | functional validation | es_ES |
dc.subject | density-lipoprotein receptor | es_ES |
dc.subject | autosomal-dominant hypercholesterolemia; | es_ES |
dc.subject | ligand-binding domain | es_ES |
dc.subject | cysteine-rich repeats | es_ES |
dc.subject | growth-factor repeat | es_ES |
dc.subject | mutational analysis | es_ES |
dc.subject | cytoplasmic domain | es_ES |
dc.subject | point mutation | es_ES |
dc.subject | south-african | es_ES |
dc.subject | molecular-genetics | es_ES |
dc.title | Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants | 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/1422-0067/19/6/1676 | es_ES |
dc.identifier.doi | 10.3390/ijms19061676 | |
dc.departamentoes | Bioquímica y biología molecular | es_ES |
dc.departamentoeu | Biokimika eta biologia molekularra | es_ES |