The Wolfram-like variant WFS1E864K destabilizes MAM and compromises autophagy and mitophagy in human and mice.
Simone Patergnani, Méghane S. Bataillard, Alberto Danese, Stacy Alves, Chantal Cazevieille, René Valéro, Lisbeth Tranebjærg, Tangui Maurice, Paolo Pinton, Benjamin Delprat, Élodie M. Richard
This study shows that the WFS1E864K variant reduces MAM integrity and disrupts autophagy and mitophagy in human and mouse models of Wolfram-like syndrome.
bioRxiv · Nov 16, 2023 · PreprintNeuroscience