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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Veröffentlicht in:Ann Clin Transl Neurol
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley & Sons, Ltd 2015
Schlagworte:
Research Articles
Online Zugang: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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