Studio di nuove strategie terapeutiche per l’Atassia di Friedreich

Pubblicazioni Scientifiche

• CELL REPORTS

  E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia

• EXPERIMENTAL GERONTOLOGY

  Autophagy induction extends lifespan and reduces lipid content in response to frataxin silencing in C. elegans

• FRONTIERS IN MOLECULAR NEUROSCIENCE

  Analyzing the Effects of a G137V Mutation in the FXN Gene

• HUMAN MOLECULAR GENETICS

  Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model

• HUMAN MOLECULAR GENETICS

  Src inhibitors modulate frataxin protein levels

• MOVEMENT DISORDERS

  Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia

• NEUROBIOLOGY OF DISEASE

  Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells