Hana Antonická

Pathogenic variants of the mitochondrial copper chaperones SCO1 and SCO2 reshape their respective interactomes and disrupt cellular phospholipid metabolism

This study maps the interactomes of pathogenic SCO1 and SCO2 variants using BioID, revealing their roles in copper delivery and phospholipid metabolism disruption.

AMPD2 deficiency causes variable-onset Leigh syndrome and implicates cytosolic purine balance in the structural preservation of respiratory complex V

This paper identifies bi-allelic AMPD2 variants as a cause of Leigh syndrome, showing they lead to complex V assembly defects and cytosolic purine imbalance.

FASTKD5 processes mitochondrial pre-mRNAs at non-canonical cleavage sites

This study identifies FASTKD5 as essential for processing non-canonical mitochondrial mRNAs and reveals its substrate-specific cleavage mechanism.

SLC25A46 is in contact with lysosomes and plays a role in mitochondrial cholesterol homeostasis

This study shows SLC25A46 is required for stress-induced mitochondrial hyperfusion and involved in mitochondrial cholesterol homeostasis.