SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

  title={SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits},
  author={Guillaume M Hautbergue and Lydia M. Castelli and Laura Ferraiuolo and Alvaro Sanchez-Martinez and Johnathan Cooper-Knock and Adrian Higginbottom and Ya-hui Lin and Claudia S. Bauer and Jennifer E Dodd and Monika A. Myszczynska and S. M. Jahangir Alam and Pierre Garneret and Jayanth Chandran and Evangelia Karyka and Matthew J. Stopford and Emma F. Smith and Janine Kirby and Kathrin Meyer and Brian K Kaspar and Adrian M. Isaacs and Sherif F El-Khamisy and Kurt J De Vos and Ke Ning and Mimoun Azzouz and Alexander J Whitworth and Pamela J Shaw},
  booktitle={Nature communications},
Hexanucleotide repeat expansions in the C9ORF72 gene are the commonest known genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Expression of repeat transcripts and dipeptide repeat proteins trigger multiple mechanisms of neurotoxicity. How repeat transcripts get exported from the nucleus is unknown. Here, we show that depletion of the nuclear export adaptor SRSF1 prevents neurodegeneration and locomotor deficits in a Drosophila model of C9ORF72-related disease. This… CONTINUE READING
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implications for the pathogenesis of ALS/FTD

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  • Acta Neuropathol. Commun. 4, 18
  • 2016
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