Mitochondrial dysfunction precedes neurodegeneration in DRPLA patient-derived neurons, and phenylbutyrate improves survival.
Njoud Al-Naama, Csaba Konràd, Shimaa Sherif, Christophe Michel Raynaud, Chengbing Wang, Shenela Lakhani, Giovanni Manfredi, Caroline Alayne Pearson, Margaret Elizabeth Ross
This study shows mitochondrial dysfunction and oxidative stress occur before neuronal loss in DRPLA patient-derived neurons, and phenylbutyrate treatment improves survival.
bioRxiv · Sep 2, 2025 · PreprintNeuroscience