Article
Atypical parkinsonism-associated retromer mutant alters endosomal sorting of specific cargo proteins.
The Journal of cell biology - 15 Aug 2016
McMillan Kirsty J, Gallon Matthew, Jellett Adam P, Clairfeuille Thomas, Tilley Frances C, McGough Ian, Danson Chris M, Heesom Kate J, Wilkinson Kevin A, Collins Brett M, Cullen Peter J
Abstract excerpt
The retromer complex acts as a scaffold for endosomal protein complexes that sort integral membrane proteins to various cellular destinations. The retromer complex is a heterotrimer of VPS29, VPS35, and VPS26. Two of these paralogues, VPS26A and VPS26B, are expressed in humans. Retromer dysfunction is associated with neurodegenerative disease, and recently, three VPS26A mutations (p.K93E, p.M112V, and p.K297X)...
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