| http://purl.uniprot.org/citations/27634045 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27634045 | http://www.w3.org/2000/01/rdf-schema#comment | "Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive and selective loss of motor neurons. Causative genes for familial ALS (fALS), e.g. TARDBP or FUS/TLS, have been found, among which mutations within the profilin 1 (PFN1) gene have recently been identified in ALS18. To elucidate the mechanism whereby PFN1 mutations lead to neuronal death, we generated transgenic Drosophila melanogaster overexpressing human PFN1 in the retinal photoreceptor neurons. Overexpression of wild-type or fALS mutant PFN1 caused no degenerative phenotypes in the retina. Double overexpression of fALS mutant PFN1 and human TDP-43 markedly exacerbated the TDP-43-induced retinal degeneration, i.e. vacuolation and thinning of the retina, whereas co-expression of wild-type PFN1 did not aggravate the degenerative phenotype. Notably, co-expression of TDP-43 with fALS mutant PFN1 increased the cytoplasmic localization of TDP-43, the latter remaining in nuclei upon co-expression with wild-type PFN1, whereas co-expression of TDP-43 lacking the nuclear localization signal with the fALS mutant PFN1 did not aggravate the retinal degeneration. Knockdown of endogenous Drosophila PFN1 did not alter the degenerative phenotypes of the retina in flies overexpressing wild-type TDP-43 These data suggest that ALS-linked PFN1 mutations exacerbate TDP-43-induced neurodegeneration in a gain-of-function manner, possibly by shifting the localization of TDP-43 from nuclei to cytoplasm."xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m116.729152"xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/author | "Hashimoto T."xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/author | "Matsumoto T."xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/author | "Miura M."xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/author | "Iwatsubo T."xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/author | "Wakabayashi T."xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/author | "Chihara T."xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/author | "Ihara R."xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/author | "Matsukawa K."xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/name | "J Biol Chem"xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/pages | "23464-23476"xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/title | "Familial Amyotrophic Lateral Sclerosis-linked Mutations in Profilin 1 Exacerbate TDP-43-induced Degeneration in the Retina of Drosophila melanogaster through an Increase in the Cytoplasmic Localization of TDP-43."xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://purl.uniprot.org/core/volume | "291"xsd:string |
| http://purl.uniprot.org/citations/27634045 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/27634045 |
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