Jonathan D. Gitlin

TL;DR: It is demonstrated here that the delivery of copper to copper/zinc superoxide dismutase (SOD1) is mediated through a soluble factor identified as Saccharomyces cerevisiae LYS7 and human CCS (copperchaperone for SOD).

TL;DR: Characterization of this disorder revealed a critical physiological role for ceruloplasmin in determining the rate of iron efflux from cells with mobilizable iron stores and has provided new insights into human iron metabolism and nutrition.

TL;DR: Current evidence suggests a direct pathogenic role for copper in the pathogenesis of neuronal injury in Alzheimer's disease and the prion-mediated encephalopathies, suggesting that further elucidation of the mechanisms of copper trafficking and metabolism within the nervous system will be of direct relevance to the pathophysiology and treatment of neurodegenerative disease.

TL;DR: An essential physiologic role for ceruloplasmin is revealed in determining the rate of iron efflux from cells with mobilizable iron stores, suggesting that iron accumulation results from altered compartmentalization within the iron cycle.

TL;DR: The identification of a genetic defect in the ceruloplasmin gene in a patient previously noted to have a total absence of circulating serum cerulplasmin in association with late-onset retinal and basal ganglia degeneration and identifies aceruloplasmemia as an autosomal recessive disorder of iron metabolism is reported.