Article

Neuronal Activity-Dependent Gene Dysregulation in <i>C9orf72</i> i <sup>3</sup> Neuronal Models of ALS/FTD Pathogenesis

2025-01-27

Abstract excerpt

The GGGGCC nucleotide repeat expansion (NRE) mutation in the C9orf72 (C9) gene is the most common cause of ALS and FTD. Neuronal activity plays an essential role in shaping biological processes within both healthy and neurodegenerative disease scenarios. Here, we show that at baseline conditions, C9-NRE iPSC-cortical neurons display aberrations in several pathways, including synaptic signaling and transcriptional...

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Literature Corpus work: 0044e54c-0571-5d27-9b16-dd515ad5629b
DOI: 10.1101/2025.01.27.632228

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