title: Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.
abstract: Senior-Løken syndrome (SLS) is an autosomal recessive disease characterized by development of a retinitis pigmentosa (RP)- or Leber congenital amaurosis (LCA)-like retinal dystrophy and a medullary cystic kidney disease, nephronophthisis. Mutations in several genes (called nephrocystins) have been shown to cause SLS. The proteins encoded by these genes are localized in the connecting cilium of photoreceptor cells and in the primary cilium of kidney cells. Nephrocystins are thought to have a role in regulating transport of proteins bound to the outer segment/primary cilium; however, the precise molecular mechanisms are largely undetermined. This review will survey the biochemistry, cell biology and existing animal models for each of the nephrocystins as it relates to photoreceptor biology and pathogenesis of retinal degeneration.
authors: Program in Neuroscience, University of Utah Health Science Center, Salt Lake City, UT 84132, USA.
authors: C C
authors: CC
authors: Ronquillo
authors: P S
authors: PS
authors: Bernstein
authors: W
authors: W
authors: Baehr
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000072661:Ciliopathies; D003598:Cytoskeletal Proteins; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D057130:Leber Congenital Amaurosis / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human