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Morpholino Knockdown in Zebrafish: A Tool to Investigate the Functional Impact of Variants of Unknown Significance in Mitochondrial Diseases.

Neuromolecular medicine - 11 Oct 2025

Laranjeira Mateus, Oliveira Jorge M A, Santorelli Filippo M, Marchese Maria, Nogueira Célia

Abstract excerpt

Mitochondrial diseases (MDs) are heterogeneous multisystemic disorders often caused by genetic defects in either nuclear or mitochondrial DNA. Although next-generation sequencing technologies have dramatically expanded the number of variants associated with these diseases, many remain variants of unknown significance (VUS). This review explores the utility of zebrafish (Danio rerio) as a vertebrate model system...

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PMID: 41075035
DOI: 10.1007/s12017-025-08890-w

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