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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.