Article
Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts.
The Journal of clinical investigation - 1 May 2010
Ye Hong, Jeong Suh Young, Ghosh Manik C, Kovtunovych Gennadiy, Silvestri Laura, Ortillo Danilo, Uchida Naoya, Tisdale John, Camaschella Clara, Rouault Tracey A
Abstract excerpt
Glutaredoxin 5 (GLRX5) deficiency has previously been identified as a cause of anemia in a zebrafish model and of sideroblastic anemia in a human patient. Here we report that GLRX5 is essential for iron-sulfur cluster biosynthesis and the maintenance of normal mitochondrial and cytosolic iron homeostasis in human cells. GLRX5, a mitochondrial protein that is highly expressed in erythroid cells, can homodimerize...
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