Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients
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- 作者：Bak ; Mads ; Hansen ; Claus ; Henriksen ; Karen Friis ; Hansen ; Lars ; Pakkenberg ; Henning ; Eiberg ; Hans ; et. al.
- 关键词：Disorders of the nervous system ; Degenerative disease ; Parkinson's ; Sonic hedgehog ; SHH ; Parkinson's disease ; Mutation ; Enhancer elements
- 刊名：Molecular Brain Research
- 出版年：2004
- 出版时间：July 26, 2004
- 年：2004
- 卷：126
- 期：2
- 页码：207-211
- 全文大小：168 K
文摘
Sonic hedgehog (SHH) is involved in the induction and differentiation of nigrostriatale dopaminergic neurons. We have investigated the promoter, two putative enhancer elements and the coding region of SHH for mutations in patients with Parkinson's disease (PD). None of the identified sequence variations were present at a significantly different frequency in PD patients compared to healthy individuals, suggesting that they are not involved in the pathogenesis of PD.