Research in our laboratory focuses on the
pathways of copper metabolism in eukaryotic cells and the human
diseases that result from perturbations in these pathways.
Proteins exploit the unique redox nature of copper to undertake a
series of facile electron transfer reactions essential for
cellular respiration, pigment formation, neurotransmitter
production, peptide biogenesis, connective tissue biosynthesis and
antioxidant defense.
Current studies are focused on the role of copper in the
neurodevelopmental pathophysiology of Menkes disease, the
mechanisms of liver copper homeostasis in patients with Wilson
Disease, and the pathogenesis of aceruloplasminemia, a
neurodegenerative disease resulting from inherited
loss-of-function mutations in the gene encoding the multicopper
oxidase ceruloplasmin.
Contact Information
Jonathan D. Gitlin, M.D. Helene B. Roberson Professor of Pediatrics Professor of Genetics Director, Children's Discovery Institute Washington University School of Medicine McDonnell Pediatric Research Building 660 South Euclid Avenue St. Louis, Missouri 63110 email address:
Administrative Assistant: Danielle Feathers 314-286-2764; Fax: 314-286-2893; email address:
SCHOOL OF MEDICINE
