Mutations in Auxilin cause parkinsonism via impaired clathrin-mediated trafficking at the Golgi apparatus and synapse
Dorien A. Roosen, Natalie Landeck, Luis Bonet‐Ponce, Jillian H. Kluss, Melissa M. Conti, Nathan Smith, Sara Sáez-Atiénzar, Jinhui Ding, Alexandra G. Beilina, Ravindran Kumaran, Alice Kaganovich, Johann du Hoffmann, Chad D. Williamson, David C. Gershlick, Luciana Sampieri, , Mark Cookson
This study identifies Auxilin mutations as a cause of Parkinson's disease by showing they impair clathrin-mediated trafficking at the Golgi and synapse, leading to neuropathological lesions.
bioRxiv · Sep 16, 2021 · PreprintNeuroscience