Article
The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
Human molecular genetics - 15 Dec 2014
Athanasiou Dimitra, Bevilacqua Dalila, Aguila Monica, McCulley Caroline, Kanuga Naheed, Iwawaki Takao, Chapple J Paul, Cheetham Michael E
Abstract excerpt
Mutations in rhodopsin, the light-sensitive protein of rod cells, are the most common cause of autosomal dominant retinitis pigmentosa (ADRP). Many rod opsin mutations, such as P23H, lead to misfolding of rod opsin with detrimental effects on photoreceptor function and viability. Misfolded P23H rod opsin and other mutations in the intradiscal domain are characterized by the formation of an incorrect disulphide...
Topics
- Cell Line, Tumor
- Disulfides
- Endoplasmic Reticulum
- Gene Expression Regulation
- HSP40 Heat-Shock Proteins
- Humans
- Molecular Chaperones
- Mutation
- Neurons
- Plasmids
- Protein Aggregates