Article
Loss of C9orf72 perturbs the Ran-GTPase gradient and generates compositionally diverse cytoplasmic Importin β-1 granules in motor and cortical neurons <i>in vivo</i>
2021-10-21
Abstract excerpt
<h4>Summary</h4> Repeat expansions in C9orf72 cause Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) eliciting toxic effects through generation of RNA foci, dipeptide repeat proteins and/or loss of C9orf72 protein. Defects in nucleocytoplasmic transport (NCT) have been implicated as a pathogenic mechanism underlying repeat expansion toxicity. Here, we show that loss of C9orf72 causes neurona...
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Identifiers and source
- Literature Corpus work
- df2e5594-881c-513c-9f0e-82cb40d244f3
- DOI
- 10.1101/2021.10.20.465148
