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 | Â | Yes | Â | Yes | Yes | Yes | Â |
Autolysosome | Â | Yes | Â | Yes | Yes | Â | Â | |
Repeat RNA and DPR | Nucleocytoplasmic transport | Yes | Â | Yes | Yes | Yes | Yes | Yes |
Nucleolus | Â | Â | Yes | Yes | Yes | Yes | Yes | |
RNA granules | Â | Â | Â | Yes* | Yes | Â | Yesa | |
DNA damage | Â | Â | Â | Yes | Yes | Yes | Â | |
DPR | Heterochromatin | Â | Â | Â | Yes | Â | Â | Yes |
Mitochondria | Â | Â | Â | Yes | Yes | Yes | Â | |
Transcription and/or translation | Yes | Â | Yes | Yes | Yes | Yes | Yes | |
Proteasome | Â | Â | Â | Yes | Yes | Â | Â | |
Reactive oxygen species | Â | Â | Â | Â | Yes | Yes | Â | |
Axonal transport | Â | Â | Â | Â | Â | Yes | Â | |
Undefined | ER stress | Â | Â | Â | Yes | Â | Yes | Â |
RNA editing | Â | Â | Â | Â | Â | Yes | Â | |
Excitotoxicity | Â | Â | Â | Â | Â | Yes | Yes | |
Cytoskeleton | Â | Â | Â | Yes | Â | Yes | Â | |
Glia-related | Â | Â | Â | Yes | Â | Â | Yes |