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A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease  Alexander Zimprich, Anna Benet-Pagès, Walter Struhal,

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Presentation on theme: "A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease  Alexander Zimprich, Anna Benet-Pagès, Walter Struhal,"— Presentation transcript:

1 A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease 
Alexander Zimprich, Anna Benet-Pagès, Walter Struhal, Elisabeth Graf, Sebastian H. Eck, Marc N. Offman, Dietrich Haubenberger, Sabine Spielberger, Eva C. Schulte, Peter Lichtner, Shaila C. Rossle, Norman Klopp, Elisabeth Wolf, Klaus Seppi, Walter Pirker, Stefan Presslauer, Brit Mollenhauer, Regina Katzenschlager, Thomas Foki, Christoph Hotzy, Eva Reinthaler, Ashot Harutyunyan, Robert Kralovics, Annette Peters, Fritz Zimprich, Thomas Brücke, Werner Poewe, Eduard Auff, Claudia Trenkwalder, Burkhard Rost, Gerhard Ransmayr, Juliane Winkelmann, Thomas Meitinger, Tim M. Strom  The American Journal of Human Genetics  Volume 89, Issue 1, Pages (July 2011) DOI: /j.ajhg Copyright © 2011 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees of Families A, B, and C
Unaffected family members are indicated by open symbols, affected members by closed symbols. Asterisks denote individuals genotyped for p.Asp620Asn. To maintain confidentiality, we have not shown genotypes of unaffected individuals. A question mark within a symbol denotes an unknown phenotype. Diagonal bars through symbols denote deceased individuals. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Hydrogen-Bonding Capacities for Wild-Type Asp620 and Arg524 and the Variants p.Asp620Asn and p.Arg524Trp Hydrogen bonds (HB) are shown as red dashed lines. Asp60 and Arg524 are in green; p.Asp620Asn and p.Arg524Trp are in orange. (A) Asp620 forms a HB to Lys622 and shows an additional salt-bridge interaction. p.Asp620Asn forms fewer HBs, and no electrostatic interaction is possible. (B) Arg524 forms a HB network with Asp483 and Asp486. This network is broken by the p.Arg524Trp substitution. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

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