title: Genetic expression of Menkes disease in cultured astrocytes of the macular mouse.
abstract: 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.
authors.affiliation: Department of Pediatrics, Teikyo University, School of Medicine, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kodama
authors.forename: Y
authors.initials: Y
authors.lastname: Meguro
authors.forename: T
authors.initials: T
authors.lastname: Abe
authors.forename: M H
authors.initials: MH
authors.lastname: Rayner
authors.forename: K T
authors.initials: KT
authors.lastname: Suzuki
authors.forename: S
authors.initials: S
authors.lastname: Kobayashi
authors.forename: M
authors.initials: M
authors.lastname: Nishimura
mesh_terms: D000818:Animals; D001253:Astrocytes / Q000378:metabolism*; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002478:Cells, Cultured; D003300:Copper / Q000378:metabolism*; D015870:Gene Expression; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics / Q000378:metabolism*; D008668:Metallothionein / Q000378:metabolism; D051379:Mice; D008817:Mice, Mutant Strains
chemical_list: D003300:Copper; D008668:Metallothionein