Raymond J. Deshaies

This paper identifies PNPLA3-I148M as a neomorphic variant that impairs ApoB secretion and lipid metabolism, contributing to fatty liver disease.

The paper quantifies MHC Class I peptide origins under UPS perturbation, revealing 30% of peptides are UPS-independent and 10% proteasome-independent, with implications for immune activation.

This study shows that inhibiting VCP activity rescues degenerating P23H rod cells and improves their function in retinal models of adRP.