Pathogenic PTCD1 variants cause mitochondrial protein aggregation and cardiomyopathy
Ana Andjelković, Noah Wetterich, Michael Bull, Arthur Fox, Filippo Scialò, Daniella Helena Hock, Benjamin B. A. Raymond, Langping He, Nichola Zoe Lax, Matthias Trost, Zofia M. Chrzanowska‐Lightowlers, Alberto Sanz, David A. Stroud, Jarno Mäkelä, Robert William Taylor, , Monika Oláhová
This study identifies pathogenic PTCD1 variants causing mitochondrial protein aggregation and cardiomyopathy by disrupting mitoribosome biogenesis and proteostasis.
bioRxiv · Jun 11, 2026 · PreprintCell Biology