Aleksandra Filipovska

The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.

This study shows that muscle-specific PolG dysfunction causes mitochondrial dysfunction and cachexia by activating the mtISR and altering the mitochondrial folate cycle.

This study shows that increased POLRMT levels enhance mitochondrial transcription initiation but do not increase OXPHOS biogenesis due to downstream regulatory limitations.