| http://purl.uniprot.org/citations/16644229 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16644229 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16644229 | http://www.w3.org/2000/01/rdf-schema#comment | "A severe recessive cerebellar ataxia, Ataxia-Oculomotor Apraxia 2 (AOA2) and a juvenile onset form of dominant amyotrophic lateral sclerosis (ALS4) result from mutations of the Senataxin (SETX) gene. To begin characterization this disease protein, we developed a specific antibody to the DNA/RNA helicase domain of SETX. In murine brain, SETX concentrates in several regions, including cerebellum, hippocampus and olfactory bulb with a general neuronal expression profile, colocalizing with NeuN. In cultured cells, we found that SETX was cytoplasmically diffuse, but in the nucleus, SETX was punctate, colocalizing with fibrillarin, a marker of the nucleolus. In differentiated non-cycling cells, nuclear SETX was not restricted to the nucleolus but was diffuse within the nucleoplasm, suggesting cell-cycle-dependent localization. SETX missense mutations cluster within the N-terminus and helicase domains. Flag tagging at the N-terminus caused protein mislocation to the nucleoplasm and failure to export to the cytoplasm, suggesting that the N-terminus may be essential for correct SETX localization. We report here the first characterization of SETX protein, which may provide future insights into a new mechanism leading to neuron death."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nbd.2006.02.007"xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nbd.2006.02.007"xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Huang Y."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Huang Y."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Bennett C.L."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Bennett C.L."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Chance P.F."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Chance P.F."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Glass I.A."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Glass I.A."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Moreira M.-C."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Moreira M.-C."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Anderson S.K."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Anderson S.K."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Lynch D.R."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Lynch D.R."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Hashemi S.H."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Hashemi S.H."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Chen Y.-Z."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/author | "Chen Y.-Z."xsd:string |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16644229 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |