TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning
H. de Calbiac, S. Montealegre, M. Straube, S. Renault, H. Debruge, L. Chentout, S. Ciura, A. Imbard, E. Le Guillou, A. Marian, N. Goudin, L. Caccavelli, S. Fabrega, A. Hubas, P. van Endert, , P. de Lonlay
This study shows TANGO2 mutations impair autophagy, leading to rhabdomyolysis, and calpeptin treatment can rescue autophagy and locomotor defects in zebrafish models.
bioRxiv · Mar 29, 2023Cell Biology