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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Vydáno v:Ann Clin Transl Neurol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Ltd 2015
Témata:
Research Articles
On-line přístup: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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