Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death

An intronic expansion of GGGGCC repeats within the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (ALS‐FTD). Ataxin‐2 with intermediate length of polyglutamine expansions (Ataxin‐2 Q30x) is a genetic modifier of the disease. Here, we found...

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Veröffentlicht in:	The EMBO journal 2016-06, Vol.35 (12), p.1276-1297
Hauptverfasser:	Sellier, Chantal, Campanari, Maria-Letizia, Julie Corbier, Camille, Gaucherot, Angeline, Kolb-Cheynel, Isabelle, Oulad-Abdelghani, Mustapha, Ruffenach, Frank, Page, Adeline, Ciura, Sorana, Kabashi, Edor, Charlet-Berguerand, Nicolas
Format:	Artikel
Sprache:	eng
Schlagworte:	ALS-FTD Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - pathology Apoptosis Ataxin-2 - metabolism Autophagy C9ORF72 C9orf72 Protein Cell Death Dementia Dementia disorders EMBO27 Frontotemporal Dementia - pathology Humans Mortality Motor Neurons - metabolism Motor Neurons - physiology neurodegeneration Peptides - metabolism Proteins - metabolism Toxicity
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