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Biology · L5 · C9orf72 Repeat Expansion Toxicity Pathways

Three convergent, non-mutually-exclusive mechanisms by which a C9orf72 hexanucleotide repeat expansion drives ALS and FTD pathology.

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C9orf72 GGGGCC Repeat ExpansionReduced C9orf72 Protein Loss of FunctionRepeat RNA Forms Nuclear FociRepeat Associated Non-AUG TranslationRNA Binding Proteins SequesteredToxic Dipeptide Repeat Proteins ProducedNeuronal Dysfunction and Death

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