Modeling mitochondrial diseases in Zebrafish: Functional Validation of Genetic Variants of Unknown Significance VUS and strategies to a therapy

Publicações

Functional Characterization of ACAD9 Variants of Uncertain Significance Using a Zebrafish Morpholino Knockdown Model

Publication . Laranjeira, Mateus; Oliveira, Jorge; Santorelli, Filippo; Marchese, Maria; Nogueira, Célia

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.

2025-07-01Documento de conferência

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Palavras-chave

, Engineering and technology ,Engineering and technology/Medical engineering

Entidade financiadora

Fundação para a Ciência e a Tecnologia, I.P.

Número da atribuição

2023.00457.BDANA