rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2000-1-27
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pubmed:abstractText |
Spinocerebellar ataxia type 7 (SCA7) belongs to a group of neurological disorders caused by a CAG repeat expansion in the coding region of the associated gene. To gain insight into the pathogenesis of SCA7 and possible functions of ataxin-7, we examined the subcellular localization of ataxin-7 in transfected COS-1 cells using SCA7 cDNA clones with different CAG repeat tract lengths. In addition to a diffuse distribution throughout the nucleus, ataxin-7 associated with the nuclear matrix and the nucleolus. The location of the putative SCA7 nuclear localization sequence (NLS) was confirmed by fusing an ataxin-7 fragment with the normally cytoplasmic protein chicken muscle pyruvate kinase. Mutation of this NLS prevented protein from entering the nucleus. Thus, expanded ataxin-7 may carry out its pathogenic effects in the nucleus by altering a matrix-associated nuclear structure and/or by disrupting nucleolar function.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Neoplasm Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Localization Signals,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/PML protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Pyruvate Kinase,
http://linkedlifedata.com/resource/pubmed/chemical/Recombinant Fusion Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors,
http://linkedlifedata.com/resource/pubmed/chemical/Tumor Suppressor Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/ataxin-7
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0964-6906
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1657-64
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:10441328-Animals,
pubmed-meshheading:10441328-COS Cells,
pubmed-meshheading:10441328-Fluorescent Antibody Technique,
pubmed-meshheading:10441328-Humans,
pubmed-meshheading:10441328-Neoplasm Proteins,
pubmed-meshheading:10441328-Nerve Tissue Proteins,
pubmed-meshheading:10441328-Nuclear Localization Signals,
pubmed-meshheading:10441328-Nuclear Matrix,
pubmed-meshheading:10441328-Nuclear Proteins,
pubmed-meshheading:10441328-Pyruvate Kinase,
pubmed-meshheading:10441328-Recombinant Fusion Proteins,
pubmed-meshheading:10441328-Spinocerebellar Ataxias,
pubmed-meshheading:10441328-Transcription Factors,
pubmed-meshheading:10441328-Transfection,
pubmed-meshheading:10441328-Tumor Suppressor Proteins
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pubmed:year |
1999
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pubmed:articleTitle |
Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7.
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pubmed:affiliation |
Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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