Video Synopsis: Chantal Sellier, Nicolas Charlet-Berguerand & colleagues

EMBO Press
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Published on Apr 4, 2016

The ALS linked factor C9orf72 forms a novel complex with SMCR8 and WDR41 to regulate GEF activity for Rab8a and Rab39b and autophagy. Loss of function of C9ORF72 synergizes with Ataxin-2 toxicity, suggesting a double-hit pathological mechanism in ALS-FTD.

The EMBO Journal 2016

Loss of C9ORF72 impairs autophagy and synergizes with polyQ ATXN2 to induce motor neuron dysfunction and cell death

Chantal Sellier, Maria-Letizia Campanari, Camille Corbier, Angeline Gaucherot, Isabelle Kolb-Cheynel, Mustapha Oulad-Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi & Nicolas Charlet-Berguerand

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