Ann Saada

This study identifies a pathogenic GFM2 intronic duplication causing mitochondrial disease and shows that splice-switching oligonucleotides can rescue splicing defects and restore mitochondrial function in patient-derived cells.

This study demonstrates that allele-specific antisense oligonucleotides can rescue ATAD3A-associated developmental defects in zebrafish by reducing mutant transcripts.

This study uses zebrafish atad3 knockout models to identify mitochondrial dysfunction as a key mechanism in ATAD3A-related human diseases.

The paper investigates the functional roles of 14 unique human mitochondrial ribosomal proteins in the small subunit, showing their essentiality in assembly and translation, with a redox-regulated role for mS37.

This study shows astaxanthin extends C. elegans lifespan by altering mitochondrial complex III biogenesis, with cross-species effects on oxidative phosphorylation.