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http://purl.uniprot.org/citations/27385586http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27385586http://www.w3.org/2000/01/rdf-schema#comment"Endosomal sorting is a highly orchestrated cellular process. Retromer is a heterotrimeric complex that associates with endosomal membranes and facilitates the retrograde sorting of multiple receptors, including the cation-independent mannose 6-phosphate receptor for lysosomal enzymes. The cycling of retromer on and off the endosomal membrane is regulated by a network of retromer-interacting proteins. Here, we find that Parkinson disease-associated Vps35 variant, R524W, but not P316S, is a loss-of-function mutation as marked by a reduced association with this regulatory network and dysregulation of endosomal receptor sorting. Expression of Vps35 R524W-containing retromer results in the accumulation of intracellular α-synuclein-positive aggregates, a hallmark of Parkinson disease. Overall, the Vps35 R524W-containing retromer has a decreased endosomal association, which can be partially rescued by R55, a small molecule previously shown to stabilize the retromer complex, supporting the potential for future targeting of the retromer complex in the treatment of Parkinson disease."xsd:string
http://purl.uniprot.org/citations/27385586http://purl.org/dc/terms/identifier"doi:10.1074/jbc.m115.703157"xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/author"Teasdale R.D."xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/author"Yang Z."xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/author"Collins B.M."xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/author"Parton R.G."xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/author"Bugarcic A."xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/author"Follett J."xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/author"Norwood S.J."xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/author"Ariotti N."xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/name"J Biol Chem"xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/pages"18283-18298"xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/title"Parkinson Disease-linked Vps35 R524W Mutation Impairs the Endosomal Association of Retromer and Induces alpha-Synuclein Aggregation."xsd:string
http://purl.uniprot.org/citations/27385586http://purl.uniprot.org/core/volume"291"xsd:string
http://purl.uniprot.org/citations/27385586http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/27385586
http://purl.uniprot.org/citations/27385586http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/27385586
http://purl.uniprot.org/uniprot/P20645#attribution-AC90BF03B83F779B547A14387B507EE1http://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/27385586
http://purl.uniprot.org/uniprot/P51149#attribution-AC90BF03B83F779B547A14387B507EE1http://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/27385586
http://purl.uniprot.org/uniprot/Q96L92#attribution-6CE57E2BB60F503D452E8B461FC48BDFhttp://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/27385586
http://purl.uniprot.org/uniprot/Q92609#attribution-AC90BF03B83F779B547A14387B507EE1http://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/27385586
http://purl.uniprot.org/uniprot/O75436#attribution-C6DE944FED8EF8880D90B75A366013A2http://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/27385586
http://purl.uniprot.org/uniprot/Q96QK1#attribution-C6DE944FED8EF8880D90B75A366013A2http://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/27385586
http://purl.uniprot.org/uniprot/Q9UBQ0#attribution-C6DE944FED8EF8880D90B75A366013A2http://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/27385586