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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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
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