Human Molecular Genetics doi:10.1093/hmg/ddq566
Alessandra Rufini, Silvia Fortuni, Gaetano Arcuri, Ivano Condo’, Dario Serio, Ottaviano Incani, Florence Malisan, Natascia Ventura, Roberto Testi
kEYWORDS: Friedreich’s Ataxia (FRDA),frataxin, mitochondrial defects, oxidative damage, frataxin stability and degradation, ubiquitin-proteasome system, K147, K147R substitution, aconitase activity, ATP levels, therapeutic potential, frataxin degradation pathway.
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