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Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits

Intronic GGGGCC repeat expansions in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Two major pathologies stemming from the hexanucleotide RNA expansions (HREs) have been identified in postmortem tissue: intracellular RNA foci and...

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Principais autores: Saul Herranz-Martin, Jayanth Chandran, Katherine Lewis, Padraig Mulcahy, Adrian Higginbottom, Callum Walker, Isabel Martinez-Pena y Valenzuela, Ross A. Jones, Ian Coldicott, Tommaso Iannitti, Mohammed Akaaboune, Sherif F. El-Khamisy, Thomas H. Gillingwater, Pamela J. Shaw, Mimoun Azzouz
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists 2017-07-01
coleção:Disease Models & Mechanisms
Assuntos:
C9orf72
Neurodegeneration
ALS/FTD
Mouse model
C9RAN aggregates
Acesso em linha:http://dmm.biologists.org/content/10/7/859
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