Victoria L Hodgkinson et al.
American journal of physiology. Cell physiology, 309(10), C660-C668 (2015-08-14)
Menkes disease is a fatal neurodegenerative disorder arising from a systemic copper deficiency caused by loss-of-function mutations in a ubiquitously expressed copper transporter, ATP7A. Although this disorder reveals an essential role for copper in the developing human nervous system, the