Cancer-associated mutations in autophagy-related proteins analyzed in yeast and human cells.

ABSTRACT: Macroautophagy/autophagy is a conserved process among eukaryotes and is essential to maintain cell homeostasis; the dysregulation of autophagy has been linked with multiple human diseases, including cancer. However, not many studies have focused on the cancer-related mutations in ATG (autophagy related) proteins, which are likely to affect the protein function, influence autophagy activity and further contribute to the progression of the disease. In this study, we focused on the four ATG4 isoforms, which have a higher mutation frequency compared with the other core ATG proteins (i.e. those involved in autophagosome formation). We first studied the mutations in conserved residues and characterized one cancer-associated mutation that significantly impairs protein function and autophagy activ

SUBMITTER: Lei Y 

PROVIDER: S-EPMC12283018 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature