Publicação
Functional Characterization of ACAD9 Variants of Uncertain Significance Using a Zebrafish Morpholino Knockdown Model
| dc.contributor.author | Laranjeira, Mateus | |
| dc.contributor.author | Oliveira, Jorge | |
| dc.contributor.author | Santorelli, Filippo | |
| dc.contributor.author | Marchese, Maria | |
| dc.contributor.author | Nogueira, Célia | |
| dc.date.accessioned | 2026-03-02T15:50:33Z | |
| dc.date.available | 2026-03-02T15:50:33Z | |
| dc.date.issued | 2025-07-01 | |
| dc.description.abstract | Background: ACAD9 is a mitochondrial protein involved in fatty acid β-oxidation and complex I assembly. Mutations in ACAD9 are associated with mitochondrial diseases (MD) of variable severity. Zebrafish (Danio rerio), with conserved mitochondrial physiology and genetic similarity to humans, is a valuable model for assessing the functional impact of variants of uncertain significance (VUS) in MD-related genes. | eng |
| dc.description.sponsorship | FCT (2023.00457.BDANA and 2023.12019.PEX) | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11017 | |
| dc.language.iso | eng | |
| dc.peerreviewed | n/a | |
| dc.relation | Modeling mitochondrial diseases in Zebrafish: Functional Validation of Genetic Variants of Unknown Significance VUS and strategies to a therapy | |
| dc.relation | Novos modelos de peixe-zebra para doenças mitocondriais | |
| dc.rights.uri | N/A | |
| dc.subject | Mitochondrial Diseases | |
| dc.subject | Morpholino Oligonucleotides | |
| dc.subject | Zebrafish | |
| dc.subject | Variants of Unknown Significance | |
| dc.subject | Rescue Experiments | |
| dc.subject | Doenças Genéticas | |
| dc.title | Functional Characterization of ACAD9 Variants of Uncertain Significance Using a Zebrafish Morpholino Knockdown Model | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardNumber | 2023.00457.BDANA | |
| oaire.awardNumber | 2023.12019.PEX | |
| oaire.awardTitle | Modeling mitochondrial diseases in Zebrafish: Functional Validation of Genetic Variants of Unknown Significance VUS and strategies to a therapy | |
| oaire.awardTitle | Novos modelos de peixe-zebra para doenças mitocondriais | |
| oaire.awardURI | http://hdl.handle.net/10400.18/10761 | |
| oaire.awardURI | http://hdl.handle.net/10400.18/11016 | |
| oaire.citation.conferenceDate | 2025-07 | |
| oaire.citation.conferencePlace | Porto, Portugal | |
| oaire.citation.title | UCIBIO Health Joint Meeting, 3, 4 Juy 2025 | |
| oaire.fundingStream | Concurso de Projetos Exploratórios em Todos os Domínios Científicos 2023 | |
| oaire.version | http://purl.org/coar/version/c_b1a7d7d4d402bcce | |
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| relation.isProjectOfPublication.latestForDiscovery | 0e899e96-890f-41e8-8b9a-66686b459bf1 |