| http://purl.uniprot.org/citations/33479240 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33479240 | http://www.w3.org/2000/01/rdf-schema#comment | "Missense mutations in Valosin-Containing Protein (VCP) are linked to diverse degenerative diseases including IBMPFD, amyotrophic lateral sclerosis (ALS), muscular dystrophy and Parkinson's disease. Here, we characterize a VCP-binding co-factor (SVIP) that specifically recruits VCP to lysosomes. SVIP is essential for lysosomal dynamic stability and autophagosomal-lysosomal fusion. SVIP mutations cause muscle wasting and neuromuscular degeneration while muscle-specific SVIP over-expression increases lysosomal abundance and is sufficient to extend lifespan in a context, stress-dependent manner. We also establish multiple links between SVIP and VCP-dependent disease in our Drosophila model system. A biochemical screen identifies a disease-causing VCP mutation that prevents SVIP binding. Conversely, over-expression of an SVIP mutation that prevents VCP binding is deleterious. Finally, we identify a human SVIP mutation and confirm the pathogenicity of this mutation in our Drosophila model. We propose a model for VCP disease based on the differential, co-factor-dependent recruitment of VCP to intracellular organelles."xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-020-20796-8"xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/author | "Johnson A.E."xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/author | "Miller B.L."xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/author | "Fetter R.D."xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/author | "Moughamian A.J."xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/author | "Davis G.W."xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/author | "Geier E.G."xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/author | "Yokoyama J.S."xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/author | "Orr B.O."xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/author | "Primeaux L.A."xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/name | "Nat Commun"xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/pages | "513"xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/title | "SVIP is a molecular determinant of lysosomal dynamic stability, neurodegeneration and lifespan."xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://purl.uniprot.org/core/volume | "12"xsd:string |
| http://purl.uniprot.org/citations/33479240 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/33479240 |
| http://purl.uniprot.org/citations/33479240 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/33479240 |
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| http://purl.uniprot.org/uniprot/Q7KN62#attribution-F01947B632EBB69C053910CA383E7CFF | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/33479240 |
| http://purl.uniprot.org/uniprot/Q8IQC6#attribution-4BA84F7B12C669BE66C2C801DE481BB9 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/33479240 |
| http://purl.uniprot.org/uniprot/Q8IQC6#attribution-F01947B632EBB69C053910CA383E7CFF | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/33479240 |
| http://purl.uniprot.org/uniprot/#_A0A0B4LFZ4-mappedCitation-33479240 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33479240 |
| http://purl.uniprot.org/uniprot/#_Q0IIN5-mappedCitation-33479240 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33479240 |