Ontology type: schema:ScholarlyArticle Open Access: True
2010-08
AUTHORSAndrew C. Elden, Hyung-Jun Kim, Michael P. Hart, Alice S. Chen-Plotkin, Brian S. Johnson, Xiaodong Fang, Maria Armakola, Felix Geser, Robert Greene, Min Min Lu, Arun Padmanabhan, Dana Clay-Falcone, Leo McCluskey, Lauren Elman, Denise Juhr, Peter J. Gruber, Udo Rüb, Georg Auburger, John Q. Trojanowski, Virginia M.-Y. Lee, Vivianna M. Van Deerlin, Nancy M. Bonini, Aaron D. Gitler
ABSTRACTThe causes of amyotrophic lateral sclerosis (ALS), a devastating human neurodegenerative disease, are poorly understood, although the protein TDP-43 has been suggested to have a critical role in disease pathogenesis. Here we show that ataxin 2 (ATXN2), a polyglutamine (polyQ) protein mutated in spinocerebellar ataxia type 2, is a potent modifier of TDP-43 toxicity in animal and cellular models. ATXN2 and TDP-43 associate in a complex that depends on RNA. In spinal cord neurons of ALS patients, ATXN2 is abnormally localized; likewise, TDP-43 shows mislocalization in spinocerebellar ataxia type 2. To assess the involvement of ATXN2 in ALS, we analysed the length of the polyQ repeat in the ATXN2 gene in 915 ALS patients. We found that intermediate-length polyQ expansions (27–33 glutamines) in ATXN2 were significantly associated with ALS. These data establish ATXN2 as a relatively common ALS susceptibility gene. Furthermore, these findings indicate that the TDP-43–ATXN2 interaction may be a promising target for therapeutic intervention in ALS and other TDP-43 proteinopathies. More... »
PAGES1069-1075
http://scigraph.springernature.com/pub.10.1038/nature09320
DOIhttp://dx.doi.org/10.1038/nature09320
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/20740007
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]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/nature09320'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/nature09320'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/nature09320'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/nature09320'
This table displays all metadata directly associated to this object as RDF triples.
418 TRIPLES
22 PREDICATES
115 URIs
98 LITERALS
28 BLANK NODES