PEX1G843D remains functional in peroxisome biogenesis but is rapidly degraded by the proteasome
Connor J. Sheedy, Soham P. Chowdhury, Bashir A. Ali, Julia Miyamoto, Eric Z. Pang, Julien Bacal, Katherine U. Tavasoli, Chris D. Richardson, Brooke M. Gardner
This study shows that the PEX1G843D mutation impairs PEX1/PEX6 assembly and leads to proteasomal degradation, but overexpression can restore peroxisome function.
Journal of Biological Chemistry · Mar 31, 2025Peer-reviewedBiochemistry