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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2008-7-3
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pubmed:abstractText |
Synphilin-1 has been linked to Parkinson's disease (PD) based on its role as an alpha-synuclein (PARK1) and Parkin (PARK2) interacting protein and its presence in lewy bodies in brains of PD patients. We recently identified a R621C mutation in the synphilin-1 gene in German PD patients. Functional analyses revealed that mutant synphilin-1 increases cellular stress, however, the involved molecular signalling pathways are currently unknown. Using microarray based gene expression analysis of dopaminergic SH-SY5Y cells overexpressing wild type or R621C mutant synphilin-1 we investigated differentially regulated genes and signalling networks using the Ingenuity Pathways Analysis tool. We show specific effects of C621 mutant synphilin-1 on gene expression that correlate with its role as a susceptibility factor in PD. The most significantly regulated signalling network was defined by the tumor growth factor beta 1 (TGF-beta1) suggesting an involvement of synphilin-1 in TGF-beta mediated signalling pathways modulating the cellular stress response.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0300-9564
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
115
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
941-58
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pubmed:dateRevised |
2009-1-14
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pubmed:meshHeading |
pubmed-meshheading:18292964-Arginine,
pubmed-meshheading:18292964-Carrier Proteins,
pubmed-meshheading:18292964-Cell Line, Transformed,
pubmed-meshheading:18292964-Cysteine,
pubmed-meshheading:18292964-Gene Expression Regulation,
pubmed-meshheading:18292964-Green Fluorescent Proteins,
pubmed-meshheading:18292964-Humans,
pubmed-meshheading:18292964-Mutation,
pubmed-meshheading:18292964-Nerve Tissue Proteins,
pubmed-meshheading:18292964-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:18292964-Signal Transduction,
pubmed-meshheading:18292964-Transfection,
pubmed-meshheading:18292964-Transforming Growth Factor beta
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pubmed:year |
2008
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pubmed:articleTitle |
Microarray expression analysis reveals genetic pathways implicated in C621 synphilin-1-mediated toxicity.
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pubmed:affiliation |
Department of Medical Genetics, Microarray Facility, University of Tübingen, Tübingen, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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