| http://purl.uniprot.org/citations/22883144 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22883144 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22883144 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.07.014"xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.07.014"xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Izumi Y."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Izumi Y."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Fujita K."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Fujita K."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Goto S."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Goto S."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Ichikawa Y."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Ichikawa Y."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Ito H."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Ito H."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Maeda K."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Maeda K."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Nakagawa M."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Nakagawa M."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Takahashi Y."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Takahashi Y."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Yoshida M."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Yoshida M."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Tanabe O."xsd:string |
| http://purl.uniprot.org/citations/22883144 | http://purl.uniprot.org/core/author | "Tanabe O."xsd:string |