| http://purl.uniprot.org/citations/16537571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16537571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16537571 | http://www.w3.org/2000/01/rdf-schema#comment | "The hereditary spastic paraplegias (HSPs) (SPG1-29) comprise a group of inherited neurological disorders characterized principally by spastic lower extremity weakness due to a length-dependent, retrograde axonopathy of corticospinal motor neurons. Mutations in the gene encoding the dynamin superfamily member atlastin-1, an oligomeric GTPase highly localized to the Golgi apparatus in the adult brain, are responsible for SPG3A, a common autosomal dominant HSP. A distinguishing feature of SPG3A is its frequent early onset, raising the possibility that developmental abnormalities may be involved in its pathogenesis. Here, we demonstrate that several missense SPG3A mutant atlastin-1 proteins have impaired GTPase activity and thus may act in a dominant-negative, loss-of-function manner by forming mixed oligomers with wild-type atlastin-1. Using confocal and electron microscopies, we have also found that atlastin-1 is highly enriched in vesicular structures within axonal growth cones and varicosities as well as at axonal branch points in cultured cerebral cortical neurons, prefiguring a functional role for atlastin-1 in axonal development. Indeed, knock-down of atlastin-1 expression in these neurons using small hairpin RNAs reduces the number of neuronal processes and impairs axon formation and elongation during development. Thus, the "long axonopathy" in early-onset SPG3A may result from abnormal development of axons because of loss of atlastin-1 function."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddl054"xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddl054"xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/author | "Stadler J."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/author | "Stadler J."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/author | "Blackstone C."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/author | "Blackstone C."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/author | "Zhu P.-P."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/author | "Zhu P.-P."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/author | "Soderblom C."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/author | "Soderblom C."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/author | "Tao-Cheng J.-H."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/author | "Tao-Cheng J.-H."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/pages | "1343-1353"xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/pages | "1343-1353"xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/title | "SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/title | "SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development."xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/volume | "15"xsd:string |
| http://purl.uniprot.org/citations/16537571 | http://purl.uniprot.org/core/volume | "15"xsd:string |