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    VPS35 Parkinson mutation impairs autophagy via WASH.
    Cell Cycle 2014 25;13(14):2155-6. Epub 2014 Jun 25.
    Department of Medical Genetics; Cambridge Institute for Medical Research; University of Cambridge; Wellcome Trust/MRC Building; Addenbrooke's Hospital; Cambridge UK.

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    Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy.
    Nat Commun 2014 May 13;5:3828. Epub 2014 May 13.
    Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge Biomedical Campus, University of Cambridge, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 0XY, UK.
    Endosomal protein sorting controls the localization of many physiologically important proteins and is linked to several neurodegenerative diseases. VPS35 is a component of the retromer complex, which mediates endosome-to-Golgi retrieval of membrane proteins such as the cation-independent mannose 6-phosphate receptor. Furthermore, retromer is also required for the endosomal recruitment of the actin nucleation promoting WASH complex. Read More
    Retromer binding to FAM21 and the WASH complex is perturbed by the Parkinson disease-linked VPS35(D620N) mutation.
    Curr Biol 2014 Jul 3;24(14):1670-1676. Epub 2014 Jul 3.
    The Henry Wellcome Integrated Signaling Laboratories, School of Biochemistry, Medical Sciences Building, University of Bristol, Bristol BS8 1TD, UK. Electronic address:
    Retromer is a protein assembly that plays a central role in orchestrating export of transmembrane-spanning cargo proteins from endosomes into retrieval pathways destined for the Golgi apparatus and the plasma membrane [1]. Recently, a specific mutation in the retromer component VPS35, VPS35(D620N), has linked retromer dysfunction to familial autosomal dominant and sporadic Parkinson disease [2, 3]. However, the effect of this mutation on retromer function remains poorly characterized. Read More
    VPS35 mutations in Parkinson disease.
    Am J Hum Genet 2011 Jul;89(1):162-7
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
    The identification of genetic causes for Mendelian disorders has been based on the collection of multi-incident families, linkage analysis, and sequencing of genes in candidate intervals. This study describes the application of next-generation sequencing technologies to a Swiss kindred presenting with autosomal-dominant, late-onset Parkinson disease (PD). The family has tremor-predominant dopa-responsive parkinsonism with a mean onset of 50. Read More