G4C2 repeat expansion in C9ORF72 is the most common genetic cause of ALS. Repeat-encoded poly(GR) is believed to contribute to disease, albeit with not fully defined mechanisms. Li et al. show that poly(GR) targets the MICOS complex, causing mitochondrial toxicity. Manipulating MICOS is beneficial in animal models and patient cells.
Altered MICOS Morphology and Mitochondrial Ion Homeostasis Contribute to Poly(GR) Toxicity Associated with C9-ALS/FTD
De Stefani D.;Mattarei A.;
2020
Abstract
G4C2 repeat expansion in C9ORF72 is the most common genetic cause of ALS. Repeat-encoded poly(GR) is believed to contribute to disease, albeit with not fully defined mechanisms. Li et al. show that poly(GR) targets the MICOS complex, causing mitochondrial toxicity. Manipulating MICOS is beneficial in animal models and patient cells.
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