Luke E. Formosa

Proximity labelling of the BAK macropore uncovers a new role for SLC35A4-MP in mitochondrial dynamics

This study uses proximity labeling to identify proteins near the BAK pore during apoptosis, revealing SLC35A4-MP's role in modulating mitochondrial dynamics.

Characterization of human Metaxin proteins reveals functional diversification of SAM37 homologs MTX1 and MTX3

This study investigates the functional differences between MTX1 and MTX3, showing that their loss leads to distinct mitochondrial phenotypes and that both depend on MTX2 for stability.

Haptoglobin and glutamine synthetase may biomark cachexia induced by anti-acute myeloid leukemia chemotherapy

This study shows that the AML chemotherapy regimen induces cachexia in mice, characterized by body and lean mass loss, and identifies haptoglobin as a potential biomarker for chemotherapy-induced cachexia.

Skeletal Muscle Specific PolG Dysfunction Activates the Integrated Stress Response and Promotes a Cachexia like Phenotype

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

Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases

This study uses untargeted proteomics to rapidly prioritize genetic variants in mitochondrial and other rare diseases, achieving functional evidence for 83% of cases in a cohort.