The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function. Santiago E. Faraj, Ernesto A. Roman, Martin Aran, Mariana Gallo and Javier Santos; FEBS Journal, Accepted manuscript online: 12 JUN 2014, DOI: 10.1111/febs.12869

In 5% of patients the typical GAA expansion is present in only one fxn allele and a missense mutation is found in the other allele. the disease course in these patients can be as severe as for patients with two expanded alleles.

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function in L198R mutant, or its complete truncation in FXN 81-193 causes FRDA.