Nature Communications (Mar 2021)
TDP-43 and PINK1 mediate CHCHD10 S59L mutation–induced defects in Drosophila and in vitro
Abstract
Mutations in CHCHD10 can cause amyotrophic lateral sclerosis and frontotemporal dementia. The authors generate mutant Drosophila and HeLa cells to study the underlying mechanisms of CHCHD10S59L -induced degeneration and show it is mediated by TDP-43 and PINK1 pathways.