A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

To identify rare causal variants in late-onset Parkinson disease (PD), we investigated an Austrian family with 16 affected individuals by exome sequencing. We found a missense mutation, c.1858G>A (p.Asp620Asn), in the VPS35 gene in all seven affected family members who are alive. By screening add...

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Main Authors: Zimprich, Alexander, Benet-Pagès, Anna, Struhal, Walter, Graf, Elisabeth, Eck, Sebastian H., Offman, Marc N., Haubenberger, Dietrich, Spielberger, Sabine, Schulte, Eva C., Lichtner, Peter, Rossle, Shaila C., Klopp, Norman, Wolf, Elisabeth, Seppi, Klaus, Pirker, Walter, Presslauer, Stefan, Mollenhauer, Brit, Katzenschlager, Regina, Foki, Thomas, Hotzy, Christoph, Reinthaler, Eva, Harutyunyan, Ashot, Kralovics, Robert, Peters, Annette, Zimprich, Fritz, Brücke, Thomas, Poewe, Werner, Auff, Eduard, Trenkwalder, Claudia, Rost, Burkhard, Ransmayr, Gerhard, Winkelmann, Juliane, Meitinger, Thomas, Strom, Tim M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3135812/
https://ncbi.nlm.nih.gov/pubmed/21763483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.06.008
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