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Article
LRRK2 R1628P increases risk of Parkinson’s disease: replication evidence
We showed that the frequency of a LRRK2 variant (c.4883G > C, R1628P) was higher in Parkinson’s disease (PD) compared to controls (8.4 vs. 3.4%, P = 0.046, OR 2.5, 95% CI 1.1–5.6). In the multivariate logistic re...
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Article
The LRRK2 Gly2385Arg variant is associated with Parkinson’s disease: genetic and functional evidence
Evidence of LRRK2 haplotypes associated with Parkinson’s disease (PD) risk was recently found in the Chinese population from Singapore, and a common LRRK2 missense variant, Gly2385Arg, was independently detect...
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Article
Differential expression of splice variant and wild-type parkin in sporadic Parkinson's disease
Altered splicing of parkin under cellular stress could lead to changes in gene expression and altered protein activity. The causative role of parkin in sporadic Parkinson's disease (PD) is unknown.
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Article
Impaired transcriptional upregulation of Parkin promoter variant under oxidative stress and proteasomal inhibition: clinical association
We provided data to show that the transcriptional activity of wildtype −258T in the parkin promoter region was significantly higher than the −258G variant in human cell lines. The transcriptional activity of wild...
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Article
Expanded FMR1 alleles are rare in idiopathic Parkinson’s disease