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1Q1 Highly specific ubiquitin-competing molecules effectively promote 2 frataxin accumulation and partially rescue the aconitase defect in 3 Friedreich ataxia …

Neurobiology of Disease. 2015; 
AlessandraRufiniabFrancescaCavalloaIvanoCondòaSilviaFortuniabGabriellaDe MartinoaOttavianoIncaniaAlmerindaDi VenerecMonicaBeniniaDamiano SergioMassaroaGaetanoArcuriaDarioSerioaFlorenceMalisanaRobertoTestiab
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Biochemicals Human recombinant frataxin precursor (aa 1-210) was expressed and purified by GenScript Corp., NJ, USA. Steady-state fluorescence spectra were recorded at 20 °C using an ISS PC1 fluorometer (Iss Inc, Champain, IL, USA). Get A Quote

摘要

Friedreich ataxia is an inherited neurodegenerative disease that leads to progressive disability. There is currently no effective treatment and patients die prematurely. The underlying genetic defect leads to reduced expression of the mitochondrial protein frataxin. Frataxin insufficiency causes mitochondrial dysfunction and ultimately cell death, particularly in peripheral sensory ganglia. There is an inverse correlation between the amount of residual frataxin and the severity of disease progression; therefore, therapeutic approaches aiming at increasing frataxin levels are expected to improve patients' conditions. We previously discovered that a significant amount of frataxin precursor is degraded by t... More

关键词

Friedreich ataxiaFrataxinUbiquitinOrphan drug development