The secreted toxin mycolactone has severe effects on the cells lining blood vessels that will play a critical role in the development of swelling in Buruli ulcer disease.

PIK3R1 mutations that cause immunodeficiency through PI3-kinase hyperactivation also cause SHORT syndrome, due to PI3-kinase hypofunction, attributable to PI3-kinase destabilisation and outcompetition by mutant PIK3R1.

A genetic screen and combined bioinformatic analyses revealed multiple novel transcription factors and their hierarchical organization in coordinating mitochondrial biogenesis.