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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Detalhes bibliográficos
Publicado no:Nat Neurosci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5578434/
https://ncbi.nlm.nih.gov/pubmed/28714954
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nn.4604
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