Imaging of changes in copper trafficking and redistribution in a mouse model of Niemann-Pick C disease using positron emission tomography.

Niemann-Pick C disease (NPC) is an autosomal recessive lysosomal storage disorder resulting from mutations in the NPC1 (95% of cases) or NPC2 genes. Disturbance of copper homeostasis has been reported in NPC1 disease. In this study we have used whole-body positron emission tomography (PET) and brain electronic autoradiography with copper-64 (Cu), in the form of the copper(II) bis(thiosemicarbazonato) complex Cu-GTSM, to image short-term changes in copper trafficking after intravenous injection in a transgenic mouse model of NPC1 disease.

Sir John Cornforth AC CBE FRS: his biosynthetic work.

Sir John Cornforth's work on the stereochemistry of enzyme reactions involved in the biosynthesis of squalene and cholesterol and in the formation and metabolism of a chiral methyl group in acetyl co-enzyme A, is reviewed.

Sir John Cornforth AC CBE FRS: his synthetic work.

Sir John Cornforth work on the synthesis of cholesterolandpenicillamine, on the chemistry of oxazoles, the stereochemistry of the synthesis of alkenes, the synthesis of abscisic acid and of dibenzophospholes as mimics of enzyme action, is reviewed.

Sir John and Lady Rita Cornforth: a distinguished chemical partnership.

This review describes the life of Sir John Cornforth AC CBE FRS, who was awarded the Nobel Prize for Chemistry in 1975. It covers his early life in Australia, his work in Oxford, the National Institute for Medical Research, the Milstead Laboratory of Chemical Enzymology and the University of Sussex, together with the contributions made by his wife, Lady Rita Cornforth.

The link between copper and Wilson's disease.

Wilson's disease (hepatolenticular degeneration) is a rare inherited autosomal recessive disorder of copper metabolism leading to copper accumulation in the liver and extrahepatic organs such as the brain and cornea. Patients may present with combinations of hepatic, neurological and psychiatric symptoms. Copper is the therapeutic target for the treatment of Wilson's disease.

The treatment of Wilson's disease, a rare genetic disorder of copper metabolism.

Wilson's disease is a rare autosomal recessive disease characterised by the deposition of copper in the brain, liver; cornea, and other organs. The overload of copper inevitably leads to progressive liver and neurological dysfunction. Copper overload in patients with Wilson's disease is caused by impairment to the biliary route for excretion of dietary copper A combination of neurological, psychiatric and hepatic symptoms can make the diagnosis of Wilson's disease challenging.