| http://purl.uniprot.org/citations/18167355 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18167355 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18167355 | http://www.w3.org/2000/01/rdf-schema#comment | "The loss of a glutamic acid residue in the AAA-ATPase (ATPases associated with diverse cellular activities) torsinA is responsible for most cases of early onset autosomal dominant primary dystonia. In this study, we found that snapin, which binds SNAP-25 (synaptosome-associated protein of 25,000 Da) and enhances the association of the SNARE complex with synaptotagmin, is an interacting partner for both wild type and mutant torsinA. Snapin co-localized with endogenous torsinA on dense core granules in PC12 cells and was recruited to perinuclear inclusions containing mutant DeltaE-torsinA in neuroblastoma SH-SY5Y cells. In view of these observations, synaptic vesicle recycling was analyzed using the lipophilic dye FM1-43 and an antibody directed against an intravesicular epitope of synaptotagmin I. We found that overexpression of wild type torsinA negatively affects synaptic vesicle endocytosis. Conversely, overexpression of DeltaE-torsinA in neuroblastoma cells increases FM1-43 uptake. Knockdown of snapin and/or torsinA using small interfering RNAs had a similar inhibitory effect on the exo-endocytic process. In addition, down-regulation of torsinA causes the persistence of synaptotagmin I on the plasma membrane, which closely resembles the effect observed by the overexpression of the DeltaE-torsinA mutant. Altogether, these findings suggest that torsinA plays a role together with snapin in regulated exocytosis and that DeltaE-torsinA exerts its pathological effects through a loss of function mechanism. This may affect neuronal uptake of neurotransmitters, such as dopamine, playing a role in the development of dystonic movements."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m704097200"xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m704097200"xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/author | "Schiavo G."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/author | "Schiavo G."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/author | "Collinson L.M."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/author | "Collinson L.M."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/author | "Watson R."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/author | "Watson R."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/author | "Warner T.T."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/author | "Warner T.T."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/author | "Granata A."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/author | "Granata A."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/pages | "7568-7579"xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/pages | "7568-7579"xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/title | "The dystonia-associated protein torsinA modulates synaptic vesicle recycling."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/title | "The dystonia-associated protein torsinA modulates synaptic vesicle recycling."xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/volume | "283"xsd:string |
| http://purl.uniprot.org/citations/18167355 | http://purl.uniprot.org/core/volume | "283"xsd:string |