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Table 1 Cellular pathophysiological processes implicated in C9ALS/FTD

From: Divergence, Convergence, and Therapeutic Implications: A Cell Biology Perspective of C9ORF72-ALS/FTD

Cause Affected Cellular Organelles or Processes Implicated in Model systems Patient Tissue
Yeast Worm Drosophila Mouse Cultured Non-patient Cells Patient iPSNs
Loss of C9ORF72 Endolysosome   Yes   Yes Yes Yes  
Autolysosome   Yes   Yes Yes   
Repeat RNA and DPR Nucleocytoplasmic transport Yes   Yes Yes Yes Yes Yes
Nucleolus    Yes Yes Yes Yes Yes
RNA granules     Yes* Yes   Yesa
DNA damage     Yes Yes Yes  
DPR Heterochromatin     Yes    Yes
Mitochondria     Yes Yes Yes  
Transcription and/or translation Yes   Yes Yes Yes Yes Yes
Proteasome     Yes Yes   
Reactive oxygen species      Yes Yes  
Axonal transport       Yes  
Undefined ER stress     Yes   Yes  
RNA editing       Yes  
Excitotoxicity       Yes Yes
Cytoskeleton     Yes   Yes  
Glia-related     Yes    Yes
  1. aAggregation of proteins that are components of RNA granules were observed.