Missense Mutations Linked to Friedreich Ataxia Have Different but Synergistic Effects on Mitochondrial Frataxin Isoforms

Friedreich ataxia is an early-onset multisystemic disease linked to a variety of molecular defects in the nuclear gene FRDA. This gene normally encodes the iron-binding protein frataxin (FXN), which is critical for mitochondrial iron metabolism, global cellular iron homeostasis, and antioxidant prot...

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Bibliografiska uppgifter
Huvudupphovsmän: Li, Hongqiao, Gakh, Oleksandr, Smith, Douglas Y., Ranatunga, Wasantha K., Isaya, Grazia
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Biochemistry and Molecular Biology 2013
Ämnen:
Molecular Bases of Disease
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3567662/
https://ncbi.nlm.nih.gov/pubmed/23269675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.435263
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