| http://purl.uniprot.org/citations/27334615 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27334615 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27334615 | http://www.w3.org/2000/01/rdf-schema#comment | "A GGGGCC hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). C9orf72 encodes two C9orf72 protein isoforms of unclear function. Reduced levels of C9orf72 expression have been reported in C9ALS/FTD patients, and although C9orf72 haploinsufficiency has been proposed to contribute to C9ALS/FTD, its significance is not yet clear. Here, we report that C9orf72 interacts with Rab1a and the Unc-51-like kinase 1 (ULK1) autophagy initiation complex. As a Rab1a effector, C9orf72 controls initiation of autophagy by regulating the Rab1a-dependent trafficking of the ULK1 autophagy initiation complex to the phagophore. Accordingly, reduction of C9orf72 expression in cell lines and primary neurons attenuated autophagy and caused accumulation of p62-positive puncta reminiscent of the p62 pathology observed in C9ALS/FTD patients. Finally, basal levels of autophagy were markedly reduced in C9ALS/FTD patient-derived iNeurons. Thus, our data identify C9orf72 as a novel Rab1a effector in the regulation of autophagy and indicate that C9orf72 haploinsufficiency and associated reductions in autophagy might be the underlying cause of C9ALS/FTD-associated p62 pathology."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.org/dc/terms/identifier | "doi:10.15252/embj.201694401"xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.org/dc/terms/identifier | "doi:10.15252/embj.201694401"xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Smith E.F."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Smith E.F."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Grierson A.J."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Grierson A.J."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Shaw P.J."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Shaw P.J."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Walsh M.J."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Walsh M.J."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Hautbergue G.M."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Hautbergue G.M."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Meyer K."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Meyer K."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Moller A."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Moller A."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Bauer C.S."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Bauer C.S."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "De Vos K.J."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "De Vos K.J."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Ferraiuolo L."xsd:string |
| http://purl.uniprot.org/citations/27334615 | http://purl.uniprot.org/core/author | "Ferraiuolo L."xsd:string |