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Friedreich’s ataxia variants I154F and W155R diminish frataxin-based activation of the iron-sulfur cluster assembly complex

Friedreich’s ataxia (FRDA) is a progressive neurodegenerative disease that has been linked to defects in the protein frataxin (Fxn). Most FRDA patients have a GAA expansion in the first intron of their Fxn gene that decreases protein expression. Some FRDA patients have a GAA expansion on one allele...

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Detalhes bibliográficos
Main Authors: Tsai, Chi-Lin, Bridwell-Rabb, Jennifer, Barondeau, David P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3319458/
https://ncbi.nlm.nih.gov/pubmed/21671584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/bi200666h
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