Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery

Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Nunziata Maio, Tracey.A. Rouault; Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 19 September 2014, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2014.09.009.

The tissue- specific phenotypes of FRDA might arise from the critical requirement of specific isoforms of FXN, which may be severely decreased in the disease. Interestingly, two rare frataxin isoforms have been recently identified [198], and their expression was substantially reduced in the heart (isoform III), and cerebellum (isoform II) of a FRDA patient, suggesting that novel expression patterns may explain some FRDA tissue specific phenotypes.