title: AIPL1 protein and its indispensable role in cone photoreceptor function and survival.
abstract: Mutations in Aryl hydrocarbon receptor interacting protein like-1 (AIPL1) are linked to Leber congenital amaurosis (LCA), a severe blinding disease that occurs in early childhood. The severity of disease is due to requirement for AIPL1 in both rod and cone photoreceptor cell survival and function. Aipl1 is expressed very early during retinal development in both rods and cones. In adult primates, robust expression of Aipl1 is found in rods but not in cones. Mouse models revealed the importance of AIPL1 in stability and function of heteromeric phosphodiesterase 6 (PDE6), an enzyme needed for visual response. However, the need for AIPL1 in cone cell survival and function is not clearly understood. In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors.
authors.affiliation: Ophthalmology and Biochemistry, Center for Neuroscience, Eye Institute, West Virginia University, One Stadium Drive, Room number E363, 26506, Morgantown, WV, USA, kolandaivelus@wvuhealthcare.com.
authors.forename: Saravanan
authors.initials: S
authors.lastname: Kolandaivelu
authors.forename: Visvanathan
authors.initials: V
authors.lastname: Ramamurthy
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000502:physiology*; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics / Q000502:physiology*; D002470:Cell Survival / Q000502:physiology; D004195:Disease Models, Animal; D005136:Eye Proteins / Q000235:genetics / Q000502:physiology*; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000473:pathology / Q000503:physiopathology*; D051379:Mice; D017949:Retinal Cone Photoreceptor Cells / Q000166:cytology* / Q000502:physiology*
chemical_list: C403625:AIPL1 protein, human; D048868:Adaptor Proteins, Signal Transducing; C498604:Aipl1 protein, mouse; D002352:Carrier Proteins; D005136:Eye Proteins