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dc.contributor.authorBenito Vicente, Asier
dc.contributor.authorBelloso Uribe, Kepa
dc.contributor.authorJebari Benslaiman, Shifa
dc.contributor.authorGalicia García, Unai
dc.contributor.authorOstolaza Echabe, Elena Amaya
dc.contributor.authorMartín Plágaro, César Augusto
dc.date.accessioned2019-03-07T12:00:28Z
dc.date.available2019-03-07T12:00:28Z
dc.date.issued2018-06
dc.identifier.citationInternational Journal of Molecular Sciences 19(6) : (2018) // Article ID 1676es_ES
dc.identifier.issn1422-0067
dc.identifier.urihttp://hdl.handle.net/10810/31910
dc.description.abstractFamilial 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.sponsorshipThis 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.isoenges_ES
dc.publisherMDPIes_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/es/*
dc.subjectlow density lipoprotein receptor (LDLr)es_ES
dc.subjectvariantses_ES
dc.subjectfamilial hypercholesterolemiaes_ES
dc.subjectis silicoes_ES
dc.subjectin vitroes_ES
dc.subjectfunctional validationes_ES
dc.subjectdensity-lipoprotein receptores_ES
dc.subjectautosomal-dominant hypercholesterolemia;es_ES
dc.subjectligand-binding domaines_ES
dc.subjectcysteine-rich repeatses_ES
dc.subjectgrowth-factor repeates_ES
dc.subjectmutational analysises_ES
dc.subjectcytoplasmic domaines_ES
dc.subjectpoint mutationes_ES
dc.subjectsouth-africanes_ES
dc.subjectmolecular-geneticses_ES
dc.titleValidation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variantses_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.holderThis 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.holderAtribución 3.0 España*
dc.relation.publisherversionhttps://www.mdpi.com/1422-0067/19/6/1676es_ES
dc.identifier.doi10.3390/ijms19061676
dc.departamentoesBioquímica y biología moleculares_ES
dc.departamentoeuBiokimika eta biologia molekularraes_ES


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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).
Except where otherwise noted, this item's license is described as 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).