A CHCHD10 variant causing ALS elicits an unfolded protein response through the IRE1/XBP1 pathway
I. R. Straub, W. Weraarpachai, E. A. Shoubridge
This study shows that a CHCHD10 variant causes ALS by triggering an unfolded protein response via the IRE1/XBP1 pathway, leading to metabolic and stress-related changes in patient cells.
bioRxiv · May 5, 2020 · PreprintCell Biology