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

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

http://hdl.handle.net/10400.18/11017

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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.