Source:http://linkedlifedata.com/resource/pubmed/id/12633880
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1-3
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pubmed:dateCreated |
2003-3-13
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pubmed:abstractText |
Infantile and juvenile neuronal ceroid lipofuscinosis (NCLs) are progressive neurodegenerative disorders of childhood with distinct ages of clinical onset, but with a similar pathological outcome. Infantile and juvenile NCL are inherited in an autosomal recessive manner due to mutations in the CLN1 and CLN3 genes, respectively. Recently developed Cln1- and Cln3-knockout mouse models share similarities in pathology with the respective human disease. Using oligonucleotide arrays we identified reproducible changes in gene expression in the brains of both 10-week-old Cln1- and Cln3-knockout mice as compared to wild-type controls, and confirmed changes in levels of several of the cognate proteins by immunoblotting. Despite the similarities in pathology, the two mutations affect the expression of different, non-overlapping sets of genes. The possible significance of these changes and the pathological mechanisms underlying NCL diseases are discussed.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/CLN3 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Glycoproteins,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Molecular Chaperones,
http://linkedlifedata.com/resource/pubmed/chemical/PPT1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0014-5793
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
13
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pubmed:volume |
538
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
207-12
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:12633880-Animals,
pubmed-meshheading:12633880-Brain,
pubmed-meshheading:12633880-Gene Expression Profiling,
pubmed-meshheading:12633880-Gene Expression Regulation,
pubmed-meshheading:12633880-Humans,
pubmed-meshheading:12633880-Membrane Glycoproteins,
pubmed-meshheading:12633880-Membrane Proteins,
pubmed-meshheading:12633880-Mice,
pubmed-meshheading:12633880-Mice, Knockout,
pubmed-meshheading:12633880-Molecular Chaperones,
pubmed-meshheading:12633880-Neuronal Ceroid-Lipofuscinoses,
pubmed-meshheading:12633880-Proteins
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pubmed:year |
2003
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pubmed:articleTitle |
Early changes in gene expression in two models of Batten disease.
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pubmed:affiliation |
Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, University of Rochester, Rochester, NY 14642, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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