Cell BiologybioRxivPreprint
Pathogenic PTCD1 variants cause mitochondrial protein aggregation and cardiomyopathy
Ana Andjelković, Noah Wetterich, Michael Bull…·Monika Oláhová
This study identifies pathogenic PTCD1 variants causing mitochondrial protein aggregation and cardiomyopathy by disrupting mitoribosome biogenesis and proteostasis.
DOI 10.64898/2026.06.06.730566