title: The role of Rds in outer segment morphogenesis and human retinal disease.
abstract: The Retinal Degeneration Slow (Rds) protein is required by photoreceptors for proper formation of the specialized outer segment organelle. Human mutations in Rds cause a multitude of blinding diseases such as retinitis pigmentosa and macular degeneration. In recent years, the use of animal models and biochemical approaches has provided evidence towards the precise function of Rds and its role in the pathogenesis of human disease. This review addresses the current understanding of the role of Rds in photoreceptor outer segment morphogenesis and provides insight into the design of therapeutic strategies to treat Rds-associated retinal diseases.
authors.affiliation: Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
authors.forename: Rafal
authors.initials: R
authors.lastname: Farjo
authors.forename: Muna I
authors.initials: MI
authors.lastname: Naash
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D007381:Intermediate Filament Proteins / Q000502:physiology*; D008562:Membrane Glycoproteins / Q000502:physiology*; D009024:Morphogenesis / Q000502:physiology*; D009419:Nerve Tissue Proteins / Q000502:physiology*; D064531:Peripherins; D012162:Retinal Degeneration / Q000209:etiology / Q000378:metabolism* / Q000628:therapy; D012374:Rod Cell Outer Segment / Q000254:growth & development*
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578997:PRPH2 protein, human; D064531:Peripherins