Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant

Proceedings of the National Academy of Science USA

Edited by Solomon H. Snyder, Johns Hopkins University School of Medicine, Baltimore, MD, and approved July 30, 2009 (received for review June 17, 2009)

Michael Li-Hsuan Huanga, Erika M. Beckera, Megan Whitnalla, Yohan Suryo Rahmantoa, Prem Ponkab,1 and Des R. Richardson.

Keywords: muscle creatine kinase (MCK), frataxin knockout mouse, frataxin deficiency, iron metabolism, neurologic and cardiologic degeneration, iron-sulfur cluster (ISC) synthesis, cysteine desulferase Nfs1, mitochondrial ferritin, 5-aminolevulinate dehydratase, coproporphyrinogen oxidase, hydroxymethylbilane synthase, uroporphyrinogen III synthase, ferrochelatase, Sec15l1, mitoferrin-2 (Mfrn2).