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Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia

Friedreich’s ataxia (FRDA), the most common inherited ataxia, is characterized by focal neurodegeneration, diabetes mellitus and life-threatening cardiomyopathy. Frataxin, which is significantly reduced in patients with this recessive disorder, is a mitochondrial iron-binding protein, but how its de...

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Détails bibliographiques
Auteurs principaux: Coppola, Giovanni, Marmolino, Daniele, Lu, Daning, Wang, Qing, Cnop, Miriam, Rai, Myriam, Acquaviva, Fabio, Cocozza, Sergio, Pandolfo, Massimo, Geschwind, Daniel H.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2009
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694693/
https://ncbi.nlm.nih.gov/pubmed/19376812
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp183
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