Frataxin levels in peripheral tissue in Friedreich ataxia

OBJECTIVE: Friedreich ataxia (FRDA) is an autosomal recessive ataxia resulting from mutations in the frataxin gene (FXN). Such mutations, usually expanded guanine–adenine–adenine (GAA) repeats, give rise to decreased levels of frataxin protein in both affected and unaffected tissues. The goal was to...

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Dettagli Bibliografici
Pubblicato in:Ann Clin Transl Neurol
Autori principali: Lazaropoulos, Michael, Dong, Yina, Clark, Elisia, Greeley, Nathaniel R, Seyer, Lauren A, Brigatti, Karlla W, Christie, Carlton, Perlman, Susan L, Wilmot, George R, Gomez, Christoper M, Mathews, Katherine D, Yoon, Grace, Zesiewicz, Theresa, Hoyle, Chad, Subramony, Sub H, Brocht, Alicia F, Farmer, Jennifer M, Wilson, Robert B, Deutsch, Eric C, Lynch, David R
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Ltd 2015
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Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4554444/
https://ncbi.nlm.nih.gov/pubmed/26339677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.225
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