Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease.

Abstract excerpt

Eukaryotic translation initiation factor 2B (eIF2B) is a master regulator of protein synthesis under normal and stress conditions. Mutations in any of the five genes encoding its subunits lead to vanishing white matter (VWM) disease, a recessive genetic deadly illness caused by progressive loss of white matter in the brain. In this study we used fibroblasts, which are not involved in the disease, to demonstrate...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Antimycin A
• Share to Cell Size