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Abnormal copper metabolism in cultured fibroblasts from patients with Wilson's disease

Version 2 2024-06-03, 11:04
Version 1 2017-08-01, 15:07
journal contribution
posted on 2024-06-03, 11:04 authored by J Camakaris, Leigh AcklandLeigh Ackland, DM Danks
Skin fibroblasts derived from patients with Wilson's disease have, under certain conditions, elevated concentrations of copper. However, the levels of intracellular copper varied from one experiment to another and the reason for this inconsistency has not yet been determined. 64Cu retention after 24 hours and its release in "chase" experiments was not abnormal, thus distinguishing these fibroblasts from Menkes' syndrome fibroblasts. The data provides evidence that the mutant gene responsible for Wilson's disease is expressed in fibroblasts under certain conditions.

History

Journal

Journal of inherited metabolic diseases

Volume

3

Pagination

155-157

Location

Berlin, Germany

ISSN

0141-8955

Language

eng

Publication classification

CN.1 Other journal article

Copyright notice

[1980, Springer]

Issue

4

Publisher

Springer

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