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Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin

Friedreich’s Ataxia is a genetic disease caused by expansion of an intronic trinucleotide repeat in the frataxin (FXN) gene yielding diminished FXN expression and consequently disease. Since increasing FXN protein levels is desirable to ameliorate pathology, we explored the role of major cellular pr...

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Publicat a:Sci Rep
Autors principals: Nabhan, Joseph F., Gooch, Renea L., Piatnitski Chekler, Eugene L., Pierce, Betsy, Bulawa, Christine E.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4680912/
https://ncbi.nlm.nih.gov/pubmed/26671574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep18251
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