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

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 fr...

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Detalles Bibliográficos
Autores principales: Hautbergue, Guillaume M., Castelli, Lydia M., Ferraiuolo, Laura, Sanchez-Martinez, Alvaro, Cooper-Knock, Johnathan, Higginbottom, Adrian, Lin, Ya-Hui, Bauer, Claudia S., Dodd, Jennifer E., Myszczynska, Monika A., Alam, Sarah M., Garneret, Pierre, Chandran, Jayanth S., Karyka, Evangelia, Stopford, Matthew J., Smith, Emma F., Kirby, Janine, Meyer, Kathrin, Kaspar, Brian K., Isaacs, Adrian M., El-Khamisy, Sherif F., De Vos, Kurt J., Ning, Ke, Azzouz, Mimoun, Whitworth, Alexander J., Shaw, Pamela J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504286/
https://www.ncbi.nlm.nih.gov/pubmed/28677678
http://dx.doi.org/10.1038/ncomms16063

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