Neuronal activity-dependent gene dysregulation in C9orf72 i 3 Neuronal models of ALS/FTD pathogenesis

  1. Layla T. Ghaffari
  2. Emily A. Welebob
  3. Sarah E. B. Newton
  4. Ashley V. Boehringer
  5. Kelly L. Cyliax
  6. Piera Pasinelli
  7. Davide Trotti
  8. Aaron R. Haeusler
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Abstract

A recent study using iPSC-derived cortical neurons reveals how neuronal activity drives gene dysregulation in C9ORF72-linked ALS/FTD. We uncover synaptic dysfunction, peroxisomal dysregulation, and NPAS4-linked transcriptional shifts, highlighting key disease-modifying pathways. Could these insights pave the way for new therapeutic targets? Explore our research and generate your own discoveries using our interactive dataset included in the link in the article.

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  1. Version published to 10.1152/ajpcell.00238.2025
  2. Version published to 10.1101/2025.01.27.632228 on bioRxiv