Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease

T. Franck, R. Krueger, D. Woitalla, T. Müller, S. Engelender, O. Riess*

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

10 Citations (Scopus)

Abstract

Seven in absentia homolog 1 (SIAH-1) is a member of the RING-finger-containing E3 ubiquitin ligases. Two substrates of SIAH-1 are α-synuclein and synphilin-1, both of these proteins are involved in Parkinson's disease (PD). Recently, mutations in Parkin, another E3 ubiquitin ligase which ubiquinates synphilin-1 and glycosylated α-synuclein, have been defined as a major cause of autosomal recessive PD. The potential role of SIAH-1 in PD is further underlined as SIAH-1 protein is a component of the Lewy bodies and as it plays a role in apoptosis caused by nitric oxide (NO) induced oxidative stress. Thus, we performed a mutation screening of the SIAH-1 gene in PD patients. However, screening a large sample of 209 familial and sporadic PD patients we could not find any disease causing mutation. We therefore conclude that genetic alterations of SIAH-1 do not significantly contribute to the pathogenesis of PD.

Original languageEnglish
Pages (from-to)1903-1908
Number of pages6
JournalJournal of Neural Transmission
Volume113
Issue number12
DOIs
Publication statusPublished - Dec 2006
Externally publishedYes

Keywords

  • Alpha-synuclein
  • Parkinson's disease
  • SIAH-1

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