| http://purl.uniprot.org/citations/8640230 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8640230 | http://www.w3.org/2000/01/rdf-schema#comment | "Human Menkes disease and the murine Mottled phenotype are X-linked diseases that result from copper deficiency due to mutations in a copper-effluxing ATPase, designated ATP7A. Male mice with the Mottled-Brindled allele (Mo-brJ) accumulate copper in the intestine, fail to export copper to peripheral organs and die a few weeks after birth. Much of the intestinal copper is bound by metallothionein (MT). To determine the function of MT in the presence of Atp7a deficiency, we crossed Mo-brJ females with males that bear a targeted disruption of the Mt1 and Mt2 genes (Mt-/-). On an Mt -/-background, most Mo-brJ males as well as heterozygous Mo-brJ females die before embryonic day 11. The lethality in Mo-brJ females can be explained by preferential inactivation of the paternal X chromosome in extraembryonic tissues and resultant copper toxicity in the absence of MT. In support of this hypothesis, cell lines derived from Mt -/-, Mo-brJ embryos are very sensitive to copper toxicity."xsd:string |
| http://purl.uniprot.org/citations/8640230 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0696-219"xsd:string |
| http://purl.uniprot.org/citations/8640230 | http://purl.uniprot.org/core/author | "Palmiter R.D."xsd:string |
| http://purl.uniprot.org/citations/8640230 | http://purl.uniprot.org/core/author | "Kelly E.J."xsd:string |
| http://purl.uniprot.org/citations/8640230 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8640230 | http://purl.uniprot.org/core/name | "Nat Genet"xsd:string |
| http://purl.uniprot.org/citations/8640230 | http://purl.uniprot.org/core/pages | "219-222"xsd:string |
| http://purl.uniprot.org/citations/8640230 | http://purl.uniprot.org/core/title | "A murine model of Menkes disease reveals a physiological function of metallothionein."xsd:string |
| http://purl.uniprot.org/citations/8640230 | http://purl.uniprot.org/core/volume | "13"xsd:string |
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