| http://purl.uniprot.org/citations/15372378 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15372378 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15372378 | http://www.w3.org/2000/01/rdf-schema#comment | "Motor neuron diseases (MNDs) are a group of neurodegenerative disorders with involvement of upper and/or lower motor neurons, such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), progressive bulbar palsy, and primary lateral sclerosis. Recently, we have mapped a new locus for an atypical form of ALS/MND (atypical amyotrophic lateral sclerosis [ALS8]) at 20q13.3 in a large white Brazilian family. Here, we report the finding of a novel missense mutation in the vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) gene in patients from this family. Subsequently, the same mutation was identified in patients from six additional kindreds but with different clinical courses, such as ALS8, late-onset SMA, and typical severe ALS with rapid progression. Although it was not possible to link all these families, haplotype analysis suggests a founder effect. Members of the vesicle-associated proteins are intracellular membrane proteins that can associate with microtubules and that have been shown to have a function in membrane transport. These data suggest that clinically variable MNDs may be caused by a dysfunction in intracellular membrane trafficking."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.org/dc/terms/identifier | "doi:10.1086/425287"xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.org/dc/terms/identifier | "doi:10.1086/425287"xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Cascio D."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Cascio D."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Middleton S."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Middleton S."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Zatz M."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Zatz M."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Webb J."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Webb J."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Skehel P."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Skehel P."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Kok F."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Kok F."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Silva H.C."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Silva H.C."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Richieri-Costa A."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Richieri-Costa A."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Nishimura A.L."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Nishimura A.L."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Oliveira J.R."xsd:string |
| http://purl.uniprot.org/citations/15372378 | http://purl.uniprot.org/core/author | "Oliveira J.R."xsd:string |