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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Detalles Bibliográficos
Autores principales: Coppola, Giovanni, Marmolino, Daniele, Lu, Daning, Wang, Qing, Cnop, Miriam, Rai, Myriam, Acquaviva, Fabio, Cocozza, Sergio, Pandolfo, Massimo, Geschwind, Daniel H.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2009
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694693/
https://www.ncbi.nlm.nih.gov/pubmed/19376812
http://dx.doi.org/10.1093/hmg/ddp183

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