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

Vision Research
L ParaoanI Grierson

Abstract

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.

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Citations

Apr 23, 2013·The International Journal of Biochemistry & Cell Biology·Alexa KlettnerKai Kaarniranta
Feb 28, 2013·BMC Ophthalmology·Luis Fernando Barba-GallardoLuis Fernando Torres-Bernal
Oct 16, 2015·Scientific Reports·Yuan LiuChen Zhao
Apr 21, 2017·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Yu-Ping JiaLi-Juan Zhang
May 23, 2018·Scandinavian Journal of Clinical and Laboratory Investigation·Tarek Mohey El-GammacyAmany Rasmy Al-Halag
Aug 7, 2013·European Journal of Epidemiology·Rui HeWeiping Jia

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