| pubmed-article:17632007 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17632007 | lifeskim:mentions | umls-concept:C0025936 | lld:lifeskim |
| pubmed-article:17632007 | lifeskim:mentions | umls-concept:C0006104 | lld:lifeskim |
| pubmed-article:17632007 | lifeskim:mentions | umls-concept:C0205145 | lld:lifeskim |
| pubmed-article:17632007 | lifeskim:mentions | umls-concept:C0002520 | lld:lifeskim |
| pubmed-article:17632007 | lifeskim:mentions | umls-concept:C1708096 | lld:lifeskim |
| pubmed-article:17632007 | lifeskim:mentions | umls-concept:C1274040 | lld:lifeskim |
| pubmed-article:17632007 | lifeskim:mentions | umls-concept:C0596988 | lld:lifeskim |
| pubmed-article:17632007 | lifeskim:mentions | umls-concept:C1709694 | lld:lifeskim |
| pubmed-article:17632007 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:17632007 | pubmed:dateCreated | 2007-9-7 | lld:pubmed |
| pubmed-article:17632007 | pubmed:abstractText | Machado-Joseph disease also called spinocerebellar ataxia type 3 (MJD/SCA3) is a hereditary and neurodegenerative movement disorder caused by ataxin-3 with a polyglutamine expansion (mutant ataxin-3). Neuronal loss in MJD/SCA3 is associated with a mutant ataxin-3 toxic fragment. Defining mutant ataxin-3 proteolytic site(s) could facilitate the identification of the corresponding enzyme(s). Previously, we reported a mutant ataxin-3 mjd1a fragment in the brain of transgenic mice (Q71) that contained epitopes C-terminal to amino acid 220. In this study, we generated and characterized neuroblastoma cells and transgenic mice expressing mutant ataxin-3 mjd1a lacking amino acids 190-220 (deltaQ71). Less deltaQ71 than Q71 fragments were detected in the cell but not mouse model. The transgenic mice developed an MJD/SCA3-like phenotype and their brain homogenates had a fragment containing epitopes C-terminal to amino acid 220. Our results support the toxic fragment hypothesis and narrow the mutant ataxin-3 cleavage site to the N-terminus of amino acid 190. | lld:pubmed |
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| pubmed-article:17632007 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17632007 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17632007 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:17632007 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:17632007 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17632007 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:17632007 | pubmed:issn | 0969-9961 | lld:pubmed |
| pubmed-article:17632007 | pubmed:author | pubmed-author:JenkinsNancy... | lld:pubmed |
| pubmed-article:17632007 | pubmed:author | pubmed-author:CopelandNeal... | lld:pubmed |
| pubmed-article:17632007 | pubmed:author | pubmed-author:RossChristoph... | lld:pubmed |
| pubmed-article:17632007 | pubmed:author | pubmed-author:GaoHongH | lld:pubmed |
| pubmed-article:17632007 | pubmed:author | pubmed-author:GotiDanielD | lld:pubmed |
| pubmed-article:17632007 | pubmed:author | pubmed-author:GonzalezGuill... | lld:pubmed |
| pubmed-article:17632007 | pubmed:author | pubmed-author:PearceDonnaD | lld:pubmed |
| pubmed-article:17632007 | pubmed:author | pubmed-author:Colomer... | lld:pubmed |
| pubmed-article:17632007 | pubmed:author | pubmed-author:Bermudez de... | lld:pubmed |
| pubmed-article:17632007 | pubmed:author | pubmed-author:BrownDale RDR | lld:pubmed |
| pubmed-article:17632007 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17632007 | pubmed:volume | 27 | lld:pubmed |
| pubmed-article:17632007 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17632007 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17632007 | pubmed:pagination | 362-9 | lld:pubmed |
| pubmed-article:17632007 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:17632007 | pubmed:meshHeading | pubmed-meshheading:17632007... | lld:pubmed |
| pubmed-article:17632007 | pubmed:meshHeading | pubmed-meshheading:17632007... | lld:pubmed |
| pubmed-article:17632007 | pubmed:meshHeading | pubmed-meshheading:17632007... | lld:pubmed |
