Source:http://linkedlifedata.com/resource/pubmed/id/18724009
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2008-8-25
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| pubmed:abstractText |
Based on studies of hypophosphatasia, which is a systemic skeletal disorder resulting from tissuenonspecific alkaline phosphatase (TNSALP) deficiency, TNSALP was suggested to be indispensable for bone mineralization. Recently, we demonstrated that there was a significant difference in bone mineral density (BMD) among haplotypes, which was lowest among TNSALP (787T [Tyr-246Tyr]) homozygotes, highest among TNSALP (787T > C [Tyr246His]) homozygotes, and intermediate among heterozygotes. To analyze protein translated from the TNSALP gene 787T > C, we performed the biosynthesis of TNSALPs using TNSALP cDNA expression vectors. TNSALP (787T) and TNSALP (787T > C) were synthesized similarly as a high-mannose-type 66-kDa form, becoming an 80-kDa form. Expression of the human 787T > C TNSALP gene using the cultured mouse marrow stromal cell line ST2 demonstrated that the protein translated from 787T > C exhibited an ALP-specific activity similarly to that of 787T. Interestingly, the Km value for TNSALP in ST2 cells transfected with the 787T > C TNSALP gene was decreased significantly compared to that of cells carrying the 787T gene (P < 0.01). These results suggest that the significant difference in Km values between the proteins translated from 787T > C and 787T may contribute to regulatory effects on bone metabolism.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Aug
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| pubmed:issn |
1880-313X
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
29
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
213-9
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| pubmed:dateRevised |
2011-4-22
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| pubmed:meshHeading |
pubmed-meshheading:18724009-Alkaline Phosphatase,
pubmed-meshheading:18724009-Animals,
pubmed-meshheading:18724009-Bone Density,
pubmed-meshheading:18724009-Cell Line,
pubmed-meshheading:18724009-Haplotypes,
pubmed-meshheading:18724009-Humans,
pubmed-meshheading:18724009-Hypophosphatasia,
pubmed-meshheading:18724009-Isoenzymes,
pubmed-meshheading:18724009-Mice,
pubmed-meshheading:18724009-Models, Molecular,
pubmed-meshheading:18724009-Polymorphism, Genetic,
pubmed-meshheading:18724009-Protein Conformation,
pubmed-meshheading:18724009-Stromal Cells
|
| pubmed:year |
2008
|
| pubmed:articleTitle |
Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density.
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| pubmed:affiliation |
Department of Food and Nutrition, Division of Nutrition, Japan Women's University, Tokyo, Japan.
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| pubmed:publicationType |
Journal Article
|