NeuroscienceJournal of Clinical InvestigationPeer-reviewed
Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis
Clayton W. Winkler, Benjamin H. Schwarz, Katie Williams…·Karin E. Peterson
This study shows that proteasome mutations in CANDLE syndrome disrupt neuronal development by increasing polyamine levels through ODC dysregulation, and inhibiting ODC can reverse these effects.
DOI 10.1172/jci199140