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

• Published in: Autophagy Vol. 12; no. 12; pp. 2263 - 2270
• Main Authors: Miao, Guangyan, Zhao, Yan G., Zhao, Hongyu, Ji, Cuicui, Sun, Huayu, Chen, Yingyu, Zhang, Hong
• Format: Journal Article
• Language: English
• Published: United States Taylor & Francis 01.12.2016
• Subjects: Agenesis of Corpus Callosum - genetics; Agenesis of Corpus Callosum - physiopathology; Animals; Apoptosis; Autophagy; Basic Brief Report; Cataract - genetics; Cataract - physiopathology; Mice, Inbred C57BL; Mice, Knockout; Photoreceptor Cells, Vertebrate - metabolism; Photoreceptor Cells, Vertebrate - pathology; Proteins - genetics; Proteins - metabolism; Retina - pathology; Retina - physiopathology; Retinal Degeneration - complications; Retinal Degeneration - pathology; Retinal Degeneration - physiopathology; Retinitis Pigmentosa - complications; Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - pathology; Retinitis Pigmentosa - physiopathology; Unfolded Protein Response; Epg5; neurodegeneration; retinitis pigmentosa; autophagy; UPR

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 accu...