Article

<i>C9orf72</i> polyGA knock-in mice exhibit mild motor and proteomic changes consistent with ALS/FTD

2025-06-02

Abstract excerpt

A GGGGCC repeat expansion in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The repeat expansion is translated into five different dipeptide repeat proteins: polyGA, polyGP, polyGR, polyAP and polyPR. To investigate the effect of polyGA, which is the most abundant dipeptide repeat protein in patient brains, we used CRISPR/Cas9 to insert 400 codon...

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Identifiers and source

Literature Corpus work: 24921c94-7a05-5112-8921-f82e45c089af
DOI: 10.1101/2025.05.30.656994

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