| http://purl.uniprot.org/citations/22801083 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22801083 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22801083 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary spastic paraplegias (HSPs) are rare neurological conditions caused by degeneration of the long axons of the cerebrospinal tracts, leading to locomotor impairment and additional neurological symptoms. There are more than 40 different causative genes, 24 of which have been identified, including SPG11 and SPG15 mutated in complex clinical forms. Since the vast majority of the causative mutations lead to loss of function of the corresponding proteins, we made use of morpholino-oligonucleotide (MO)-mediated gene knock-down to generate zebrafish models of both SPG11 and SPG15 and determine how invalidation of the causative genes (zspg11 and zspg15) during development might contribute to the disease. Micro-injection of MOs targeting each gene caused locomotor impairment and abnormal branching of spinal cord motor neurons at the neuromuscular junction. More severe phenotypes with abnormal tail developments were also seen. Moreover, partial depletion of both proteins at sub-phenotypic levels resulted in the same phenotypes, suggesting for the first time, in vivo, a genetic interaction between these genes. In conclusion, the zebrafish orthologues of the SPG11 and SPG15 genes are important for proper development of the axons of spinal motor neurons and likely act in a common pathway to promote their proper path finding towards the neuromuscular junction."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nbd.2012.07.003"xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Brice A."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Brice A."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Stevanin G."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Stevanin G."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Rastetter A."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Rastetter A."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Martin E."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Martin E."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Rivaud-Pechoux S."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Rivaud-Pechoux S."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Kabashi E."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Kabashi E."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Soussi-Yanicostas N."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Soussi-Yanicostas N."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Yanicostas C."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Yanicostas C."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Alavi Naini S.M."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Alavi Naini S.M."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Maouedj A."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/author | "Maouedj A."xsd:string |
| http://purl.uniprot.org/citations/22801083 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |