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FARAFARA Cure FA

Analyzing the Effects of a G137V Mutation in the FXN Gene

This study analyzes the effects of a point mutation G137V. A combination of biophysical and biochemical methods were used to characterize the effects of the mutation on the structure, folding and activity of frataxin. The study reveals no impairment of the structure or activity of the protein but a reduced folding stability, suggesting that the mutation causes misfolding of the native chain with consequent reduction of the protein concentration in the patient and discuss the possible mechanism of disease.

Read more here: http://www.ncbi.nlm.nih.gov/pubmed/26635519


About the Author

Jen Farmer

Jen Farmer

Executive Director

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