Publicação
Truncating APOB Variants Impair LDL Metabolism: Functional Evidence From Binding Studies
| datacite.subject.fos | Ciências Médicas | |
| dc.contributor.author | Ferreira, Maria Simões | |
| dc.contributor.author | Larrea-Sebal, Asier | |
| dc.contributor.author | Martín, César | |
| dc.contributor.author | Apellaniz-Ruiz, Maria | |
| dc.contributor.author | Ernaga-Lorea, Ander | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.contributor.author | Alves, Ana Catarina | |
| dc.date.accessioned | 2026-03-04T14:25:06Z | |
| dc.date.available | 2026-03-04T14:25:06Z | |
| dc.date.issued | 2025-11-20 | |
| dc.description | Abstract disponível em: Sociedade Portuguesa de Genética Humana. Livro de Resumos. 29. Annual Meeting; 2025 Nov 20-22; Coimbra, Portugal. p. 74. | |
| dc.description.abstract | Familial hypercholesterolaemia ( is a condition caused by pathogenic variants in LDLR APOB or PCSK 9 genes, characterised by high levels of LDL cholesterol and premature cardiovascular disease ( APOB variants account for 5 10 of FH cases, most being due to missense variants however, this can be higher than initially estimated Although truncating variants are typically associated with hypocholesterolaemia phenotype, some have been reported in clinical FH patients and can be the cause of diseaseThis study is part of the PerMedFH project and aimed to functionally characterise four nonsense APOB variants in exon 29 identified in patients with a clinical diagnosis of FH, emphasising on their molecular consequences and possible contribution to the FH phenotype. This study is part of the PerMedFH project and aimed to functionally characterise four nonsense APOB variants in exon 29 identified in patients with a clinical diagnosis of FH, emphasising on their molecular consequences and possible contribution to the FH phenotype | eng |
| dc.description.sponsorship | Work supported by the Fundação para a Ciência e a Tecnologia(FCT), Portugal, through the research unit grant UID/04046/2023 Biosystems and Integrative Sciences Institute, and the PhD fellowship 2024.06461.BDANA, and by the European Union’s Digital Europe Programme under grant agreement No.101168231. | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11124 | |
| dc.language.iso | eng | |
| dc.peerreviewed | n/a | |
| dc.relation | 101168231 | |
| dc.relation | UID/04046/2023 | |
| dc.relation | 2024.06461.BDANA | |
| dc.relation.hasversion | https://spgh.net/wp-content/uploads/2014/04/liv_resumos_spgh25-1.pdf | |
| dc.rights.uri | N/A | |
| dc.subject | Familial Hypercholesterolemia | |
| dc.subject | APOB Variants | |
| dc.subject | Nonsense variants | |
| dc.subject | Functional Studies | |
| dc.subject | Doenças Cardio e Cérebro-vasculares | |
| dc.title | Truncating APOB Variants Impair LDL Metabolism: Functional Evidence From Binding Studies | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-11 | |
| oaire.citation.conferencePlace | Coimbra, Portugal | |
| oaire.citation.title | 29th Annual Meeting of the Portuguese Society of Human Genetics (SPGH), 20-22 novembro 2025 | |
| oaire.version | http://purl.org/coar/version/c_b1a7d7d4d402bcce |