Article
Molecular and clinical correlates in iron overload associated with mutations in ferroportin.
Haematologica - 1 Aug 2006
De Domenico Ivana, McVey Ward Diane, Nemeth Elizabeta, Ganz Tomas, Corradini Elena, Ferrara Francesca, Musci Giovanni, Pietrangelo Antonello, Kaplan Jerry
Abstract excerpt
Mutations in ferroportin (Fpn) result in iron overload. We correlate the behavior of three Fpn mutants in vitro with patients' phenotypes. Patients with Fpn mutations A77D or N174I showed macrophage iron loading. In cultured cells, FpnA77D did not reach the cell surface and cells did not export iron. Fpn mutant N174I showed plasma membrane and intracellular localization, and did not transport iron. Fpn mutation...
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