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Publication : Genetic expression of Menkes disease in cultured astrocytes of the macular mouse.

First Author  Kodama H Year  1991
Journal  J Inherit Metab Dis Volume  14
Issue  6 Pages  896-901
PubMed ID  1779648 Mgi Jnum  J:617
Mgi Id  MGI:49153 Doi  10.1007/BF01800470
Citation  Kodama H, et al. (1991) Genetic expression of Menkes disease in cultured astrocytes of the macular mouse. J Inherit Metab Dis 14(6):896-901
abstractText  The copper concentration was investigated in the cultured astrocytes from macular mice, an animal model of Menkes disease. An excessive amount of copper was accumulated in the astrocytes as copper-metallothionein. These results show that the underlying genetic defect of the macular mouse is expressed in the astrocytes. A similar situation may exist in Menkes disease and cause a failure of copper transport to neurones.
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