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Dr. Rouault’s laboratory has a long-standing interest in regulation of mammalian iron metabolism. Early work involved cloning and characterization of iron regulatory proteins 1 and 2 (IRPs), and elucidation of how these proteins sense cytosolic iron levels and regulate expression of iron metabolism genes. IRPs bind to RNA stem-loops known as iron-responsive elements (IREs) in transcripts that encode iron metabolism genes, including ferritin, transferrin receptor 1, ferroportin, HIF2 alpha, and several other transcripts. IRP1 acquires an iron-sulfur cluster in iron-replete cells that prevents it from binding to IREs, and enables it to function as a cytosolic aconite. The discovery of the iron-sulfur cluster in IRP1 led to extensive studies of mechanisms of iron-sulfur cluster biogenesis, which resulted in characterization of a mammalian cysteine desulfurase, NFS1, a primary scaffold known as ISCU, a secondary scaffold known as NFU1, an NFS1 binding partner, ISD11, and a cochaperone known as HSC20. Defective iron sulfur biogenesis causes several diseases, including Friedreich ataxia, and four new diseases that our group helped to discover and characterize, including ISCU myopathy, sideroblastic anemia from GLRX5 deficiency, and lactic acidosis caused by mutations in NFU1 and BOLA3. The lab is actively engaged in trying to treat diseases using antisense strategies.
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Nunziata Maio,Rotem Orbach,Irina Zaharieva,Ana Töpf,Sandra Donkervoort,Pinki Munot, Juliane Mueller,Tracey Willis,Sumit Verma,Stojan Peric,Deepa Krishnakumar, Sniya Sudhakar,
medRxiv : the preprint server for health sciences (2023)
A. Foley,N. Maio,J. Todd,L. Huryn, D. Saade, S. Neuhaus,S. Donkervoort,R. Hufnagel,S. Stasheff, R. Orbach,J. Gurgel-Giannetti,A. Gropman,
NEUROMUSCULAR DISORDERS (2023): S133-S133
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