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doi: 10.1177/1479164114521643 84 AlsawafSAlnuaimiFAfzalSThomasRMChelakkotALRamadanWSet al

The disease is caused by a mutation in the ATP7B gene, which codes for a protein that facilitates the incorporation of copper into proteins (such as ceruloplasmin) and also the transportation of copper into vesicles that allow it to be secreted in bile.1 The critical effect of a mutation in ATP7B is diminished copper secretion into bile, which leads to excess copper accumulation in the hepatocyte

Recent progress toward understanding the molecular mechanisms that regulate skeletal muscle mass

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