A gene expression phenotype in lymphocytes from Friedreich ataxia patients.

  title={A gene expression phenotype in lymphocytes from Friedreich ataxia patients.},
  author={Giovanni Coppola and Ryan Burnett and Susan L. Perlman and Revital Versano and Fuying Gao and Heather L. Plasterer and Myriam Rai and Francesco Sacc{\`a} and Alessandro Filla and David R Lynch and James R. Rusche and Joel M. Gottesfeld and Massimo Pandolfo and Daniel H. Geschwind},
  journal={Annals of neurology},
  volume={70 5},
OBJECTIVE Gene expression studies in peripheral tissues from patients with neurodegenerative disorders can provide insights into disease pathogenesis, and identify potential biomarkers, an important goal of translational research in neurodegeneration. Friedreich Ataxia (FRDA) is a chronic neurodegenerative disease caused by reduced transcription of frataxin, a ubiquitously expressed protein. We studied in vitro lymphocytes from FRDA patients and carriers to identify a peripheral gene expression… CONTINUE READING


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