Alzheimer disease-associated cystatin C variant undergoes impaired secretion

@article{Benussi2003AlzheimerDC,
  title={Alzheimer disease-associated cystatin C variant undergoes impaired secretion},
  author={Luisa Benussi and Roberta Ghidoni and Tiana Steinhoff and Antonella C Alberici and Giuliano Binetti},
  journal={Neurobiology of Disease},
  year={2003},
  volume={13},
  pages={15-21}
}
CST3 is the coding gene for cystatin C (CysC). CST3 B/B homozygosity is associated with an increased risk of developing Alzheimer disease. We performed CysC analysis on human primary skin fibroblasts obtained from donors carrying A/A, A/B, and B/B CST3. Pulse-chase experiments demonstrated that the release of the B variant of CysC has a different temporal pattern compared to that of the A one. Fibroblasts B/B homozygous displayed a reduced secretion of CysC due to a less efficient cleavage of… CONTINUE READING

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