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C9orf72 Expansion Disrupts ATM-mediated Chromosomal Break Repair

A hexanucleotide repeat expansion represents the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, though the mechanisms by which the expansion cause neurodegeneration are poorly understood. We report elevated levels of DNA/RNA hybrids (R-loops) and double...

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Detalles Bibliográficos
Autores principales: Walker, Callum, Herranz-Martin, Saul, Karyka, Evangelia, Liao, Chunyan, Lewis, Katherine, Elsayed, Waheba, Lukashchuk, Vera, Chiang, Shih-Chieh, Ray, Swagat, Mulcahy, Padraig J., Jurga, Mateusz, Tsagakis, Ioannis, Iannitti, Tommaso, Chandran, Jayanth, Coldicott, Ian, De Vos, Kurt J., Hassan, Mohamed K., Higginbottom, Adrian, Shaw, Pamela J., Hautbergue, Guillaume M., Azzouz, Mimoun, El-Khamisy, Sherif F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578434/
https://www.ncbi.nlm.nih.gov/pubmed/28714954
http://dx.doi.org/10.1038/nn.4604