Cell BiologyCell Death DiscoveryPeer-reviewed
Novel truncating Desmin mutation Arg150Stop disrupts structural integrity and cellular homeostasis by formation of persistent aggregate-like structure
Sukanya Mitra, Trisha Ghosh, Arun Kumar Mishra…·Moulinath Acharya
This study investigates a novel truncating Desmin mutation, Arg150Stop, showing it causes persistent aggregate-like structures that disrupt cellular homeostasis and cytoskeletal integrity through a toxic gain-of-function mechanism.
DOI 10.1038/s41420-026-03184-x