Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa.

ABSTRACT: Autophagy helps to maintain cellular homeostasis by removing misfolded proteins and damaged organelles, and generally acts as a cytoprotective mechanism for neuronal survival. Here we showed that mice deficient in the Vici syndrome gene Epg5, which is required for autophagosome maturation, show accumulation of ubiquitin-positive inclusions and SQSTM1 aggregates in various retinal cell types. In epg5^-/- retinas, photoreceptor function is greatly impaired, and degenerative features including progressively reduced numbers of photoreceptor cells and increased numbers of apoptotic cells in the outer nuclear layer are observed, while the morphology of other parts of the retina is not severely affected. Downstream targets of the unfolded protein response (UPR), including the death indu

SUBMITTER: Miao G 

PROVIDER: S-EPMC5173265 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature