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Human Disorders of Copper Metabolism I

Edited by

Edited by Stephen G. Kaler (National Institutes of Health), Svetlana Lutsenko (Johns Hopkins University), Michael L. Schilsky (Yale University School of Medicine), Dennis J. Thiele (Duke University School of Medicine), and Dominik Huster (Deaconess Hospital Leipzig)

Human Disorders of Copper Metabolism I

Published: May 2014

Volume 1314

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The last decade of intensive biomedical studies has produced a great deal of information on the molecular machinery involved in the human body’s handling of copper. New metabolic connections between copper homeostasis and other physiologic processes have also been identified. Furthermore, genetic and cell biological studies have expanded our understanding of human copper metabolism and enabled discovery of new disorders linked to improper function of its various components. On April 8–9, 2013, an international workshop entitled “Human Disorders of Copper Metabolism: Recent Advances and Main Challenges” was held at the Johns Hopkins School of Medicine, Baltimore, Maryland. A unique feature of this conference, compared to other scientific events in the field of copper research, was a stated emphasis on the translational implications of fundamental research in the field. A collection of papers stemming from the conference are presented in this first of two Annals volumes. Among the topics explored include the impact of copper deficiency in humans; the functional understanding of the versatile protein COpper Metabolism MURR1 domain 1 (COMMD1) in copper homeostasis; the role of copper in amygdalar behavioral and synaptic function; the use of positron emission tomography to measure copper fluxes in live organisms; how copper traverses cellular membranes through the mammalian copper transporter 1; new canine models of copper toxicosis; ATP7A trafficking and mechanisms underlying distal motor neuropathy; AP1S1 defects causing MEDNIK syndrome; and translational research investigations on ATP7A.