Increased Copper Metallothionein in Menkes Cultured Skin Fibroblasts

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Menkes disease: a biochemical abnormality in cultured human fibroblasts.

Cultured skin fibroblasts from patients with Menkes disease, an X-linked disorder involving a defect in copper metabolism, were analyzed for copper concentration by means of atomic absorption spectrophotometry. These cultures consistently exhibited elevated copper concentrations (mean = 335.5 ng of copper per mg of protein) when compared to control fibroblast cultures (mean = 59.2 ng of copper ...

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role of cultured skin fibroblasts in aesthetic and plastic surgery

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A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.

Copper dependency in humans is most dramatically illustrated in Menkes disease, an X linked recessive copper deficiency disorder that is generally lethal in early childhood. 2 Menkes disease is caused by mutations in a transmembrane copper transporting P type ATPase, MNK (or ATP7A), which is expressed in virtually all non-hepatic tissues. Studies using cultured cells suggest that MNK is located...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 1981

ISSN: 0031-3998,1530-0447

DOI: 10.1203/00006450-198103000-00012