C9orf72 suppresses systemic and neural inflammation induced by gut bacteria

Abstract excerpt

A hexanucleotide-repeat expansion in C9ORF72 is the most common genetic variant that contributes to amyotrophic lateral sclerosis and frontotemporal dementia1,2. The C9ORF72 mutation acts through gain- and loss-of-function mechanisms to induce pathways that are implicated in neural degeneration3–9. The expansion is transcribed into a long repetitive RNA, which negatively sequesters RNA-binding proteins5 before...

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