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Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome
Authors:Chantal Sellier  Fernande Freyermuth  Ricardos Tabet  Tuan Tran  Fang He  Frank Ruffenach  Violaine Alunni  Herve Moine  Christelle Thibault  Adeline Page  Flora Tassone  Rob Willemsen  Matthew D Disney  Paul J Hagerman  Peter K Todd  Nicolas Charlet-Berguerand
Institution:1. Department of Translational Medicine, IGBMC, Illkirch 67400, France;2. College de France, Paris 75000, France;3. Department of Chemistry, The Scripps Research Institute, Jupiter, FL 33458, USA;4. Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA;5. M.I.N.D. Institute, University of California, Davis, Sacramento, CA 95817, USA;6. Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA 95817, USA;7. Department of Clinical Genetics, Erasmus MC, Rotterdam 3000 DR, The Netherlands
Abstract:
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  • Highlights? DGCR8 binds to CGG RNA repeats, cause of the neurodegenerative FXTAS disease ? DGCR8 and its partner, DROSHA, are sequestered within CGG RNA aggregates ? DGCR8 rescues the neuronal cell death induced by expanded CGG RNA repeats ? MicroRNA processing is impaired in patients with FXTAS
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