Eric A. Shoubridge

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.

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

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

This study shows that loss of Chchd10 or Chchd2 in zebrafish causes ALS-like symptoms and Complex I deficiency, with double KO showing more severe effects and mt-ISR activation.

Profiling 192 subcellular markers by proximity-dependent biotinylation (BioID) in human HEK 293 cells maps 4,145 proteins across 32 compartments via 35,902 interactions, available with analysis tools at humancellmap.org.