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Title of Journal: J Neural Transm

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Abbravation: Journal of Neural Transmission

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Springer-Verlag

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DOI

10.1007/s11746-998-0335-x

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1435-1463

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Mutation analysis of the seven in absentia homolog

Authors: T Franck R Krueger D Woitalla T Müller S Engelender O Riess
Publish Date: 2006/06/06
Volume: 113, Issue: 12, Pages: 1903-1908
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Abstract

Seven in absentia homolog 1 SIAH1 is a member of the RINGfingercontaining E3 ubiquitin ligases Two substrates of SIAH1 are αsynuclein and synphilin1 both of these proteins are involved in Parkinson’s disease PD Recently mutations in Parkin another E3 ubiquitin ligase which ubiquinates synphilin1 and glycosylated αsynuclein have been defined as a major cause of autosomal recessive PD The potential role of SIAH1 in PD is further underlined as SIAH1 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 SIAH1 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 SIAH1 do not significantly contribute to the pathogenesis of PD

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