期刊
ANNALS OF NEUROLOGY
卷 70, 期 5, 页码 790-804出版社
WILEY-BLACKWELL
DOI: 10.1002/ana.22526
关键词
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资金
- Miriam and Sheldon G. Adelson Medical Research Foundation
- Repligen Corporation
- Friedreich's Ataxia Research Alliance/Muscular Dystrophy Association
- NIH National Institute of Neurological Disorders and Stroke [NS055781]
- European Union [242193/EFACTS]
- Convention Jean Van Damme Fonds Erasme
- Santhera Pharmaceuticals
- Friedreich Ataxia Research Alliance
- GOFAR
- Italian Ministry of Education, Italian Ministry of Health
- NIH
- MDA
- FARA
- Penwest
- Santhera
- NINDS
- Repligen
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 phenotype. Peripheral biomarkers related to disease status would be extremely valuable for assessing drug efficacy and could provide new pathophysiological insights.
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