Genetic association between Ubiquitin Carboxy-terminal Hydrolase-L1 gene S18Y polymorphism and sporadic Alzheimer's disease in a Chinese Han population.

@article{Xue2006GeneticAB,
  title={Genetic association between Ubiquitin Carboxy-terminal Hydrolase-L1 gene S18Y polymorphism and sporadic Alzheimer's disease in a Chinese Han population.},
  author={Sufang Xue and Jian-ping Jia},
  journal={Brain research},
  year={2006},
  volume={1087 1},
  pages={28-32}
}
Increasing evidence indicates that the dysfunction of ubiquitin-proteasome system (UPS) is associated with Alzheimer's disease (AD). In the ubiquitin-proteasome pathway, Ubiquitin Carboxy-terminal Hydrolase-L1 (UCH-L1) plays an important role for the cellular clearance of abnormal proteins. Since a substitution of serine by tyrosine at codon 18, exon 3 (S18Y polymorphism) of the UCH-L1 gene exhibits a protective effect against the development of degenerative disease such as sporadic Parkinson's… CONTINUE READING
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