| http://purl.uniprot.org/citations/19217189 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19217189 | http://www.w3.org/2000/01/rdf-schema#comment | "Frontotemporal lobar degeneration (FTLD) is now recognised as a common form of early onset dementia. Up to 40% of patients have a family history of disease demonstrating a large genetic component to its etiology. Linkage to chromosome 9p21 has recently been reported in families with this disorder. We undertook a large scale two-stage linkage disequilibrium mapping approach of this region in the Manchester FTLD cohort. We identified association of ubiquitin associated protein 1 (UBAP1; OR 1.42 95% CI 1.08-1.88, P=0.013) with FTLD in this cohort and we replicated this finding in an additional two independent cohorts from the Netherlands (OR 1.33 95% CI 1.04-1.69, P=0.022), the USA (OR 1.4 95% CI 1.02-1.92, P=0.032) and a forth Spanish cohort approached significant association (OR 1.45 95% CI 0.97-2.17, P=0.064). However, we failed to replicate in a fifth cohort from London (OR 0.99 95% CI 0.72-1.37, P=0.989). Quantitative analysis of UBAP1 mRNA extracted from tissue from the Manchester cases demonstrated a significant reduction of expression from the disease-associated haplotype. In addition, we identified a case of familial FTLD that demonstrated colocalisation of UBAP1 and TDP-43 in the neuronal cytoplasmic inclusions in the brain of this individual. Our data for the first time identifies UBAP1 as a genetic risk factor for FTLD and suggests a mechanistic relationship between this protein and TDP-43."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.neurobiolaging.2009.01.009"xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Baker M."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Graff-Radford N."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Rademakers R."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Alonso E."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Cairns N."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Guerreiro R."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Mann D.M."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Pastor P."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Rossor M."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Traynor B.J."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Morrison K.E."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Rizzu P."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Snowden J."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Martinez-Lage P."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Collinge J."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Halliwell N."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Heutink P."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Neary D."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Rollinson S."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Mead S."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Pickering-Brown S.M."xsd:string |
| http://purl.uniprot.org/citations/19217189 | http://purl.uniprot.org/core/author | "Sikkink S."xsd:string |