HSOP's Mouli Wins Most Outstanding At Auburn's Research Week. The Auburn pharmacist e-news, Auburn University. June 12, 2014
Currently she is developing novel drug strategies for increasing the transcriptional regulation of frataxin to mitigate the detrimental effects of Doxorubicin upon frataxin.
Friday, June 13, 2014
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.
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.
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