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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Cystatin C in macular and neuronal degenerations: implications for mechanism(s) of age-related macular degeneration.

Cystatin C is a strong inhibitor of cysteine proteinases expressed by diverse cells. Variant B cystatin C, which was associated with increased risk of developing age-related macular degeneration, differs from the wild type protein by a single amino acid (A25T) in the signal sequence responsible for its targeting to the secretory pathway. The same variant conveys susceptibility to Alzheimer disease. Our investigations of the trafficking and processing of variant B cystatin C in living RPE cells highlight impaired secretion of extracellular modulators and inappropriate protein retention in RPE cells as potential molecular mechanisms underpinning macular, and possibly neuronal, degeneration.[1]

References

  1. Cystatin C in macular and neuronal degenerations: implications for mechanism(s) of age-related macular degeneration. Paraoan, L., Hiscott, P., Gosden, C., Grierson, I. Vision Res. (2010) [Pubmed]
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