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C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten
Amyotrophic lateral sclerosis (ALS) is a devastating and incurable neurodegenerative disease, characterised by progressive failure of the neuromuscular system. A (G4C2)n repeat expansion in C9ORF72 is the most common genetic cause of ALS and frontotemporal dementia (FTD). To date, the balance of evi...
Autores principales: | Stopford, Matthew J., Higginbottom, Adrian, Hautbergue, Guillaume M., Cooper-Knock, Johnathan, Mulcahy, Padraig J., De Vos, Kurt J., Renton, Alan E., Pliner, Hannah, Calvo, Andrea, Chio, Adriano, Traynor, Bryan J., Azzouz, Mimoun, Heath, Paul R., Kirby, Janine, Shaw, Pamela J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409131/ https://www.ncbi.nlm.nih.gov/pubmed/28158451 http://dx.doi.org/10.1093/hmg/ddx022 |
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