Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis

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Publication Type pre-print
School or College School of Medicine
Department Ophthalmology
Creator Bernstein, Paul S.
Other Author Ronquillo, C. C.; Baehr, W.
Title Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis
Date 2012-01-01
Description Senior-Løken syndrome (SLS) is an autosomal recessive disease characterized by development of a retinitis (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 to understand the photoreceptor biology and the pathogenesis of retinal degeneration.
Type Text
Publisher Elsevier
Volume 75
First Page 88
Last Page 97
Language eng
Bibliographic Citation Ronquillo, C. C., Bernstein, P. S., & Baehr, W. (2012). Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vision Research, 75, 88-97.
Rights Management (c) Elsevier ; Authors manuscript from Ronquillo, C. C., Bernstein, P. S., & Baehr, W. (2012). Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vision Research, 75, 88-97. http://dx.doi.org/10.1016/j.visres.2012.07.003.
Format Medium application/pdf
Format Extent 3,068,496 bytes
Identifier uspace,18159
ARK ark:/87278/s6pn9qf6
Setname ir_uspace
Date Created 2013-03-29
Date Modified 2013-04-01
ID 708346
Reference URL https://collections.lib.utah.edu/ark:/87278/s6pn9qf6
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