Table 1.
Functional impact of ER stress/ER stress response on muscle diseases.
| Disease | Model | ER stress/ER stress response handling | Phenotype |
|---|---|---|---|
|
Spinal and bulbar muscular atrophy |
AR113Q mouse | CHOP KO | Accentuated muscle atrophy |
| Rhabdomyolysis in children | Lipin-1 muscle-deficient mouse | TUDCA (500 mg/kg twice a day) | Improved muscle force |
| Amyotrophic lateral sclerosis | G93A*SOD1 mouse | Sephin (5 mg/kg once a day) | Improved motor deficit |
| Optic atrophy | OPA1 muscle-deficient mouse | TUDCA (500 mg/kg twice a day) | Improved muscle wasting |
| SEPN1-related myopathy | SELENON KO mouse | AAV-ERO1 (gastrocnemius) | Reduced muscle force |
| CHOP KO | Improved muscle force, insulin resistance | ||
| RYR1-mediated core myopathy | RyR1I4895T/WT Knock-in mouse | 4-PBA (approximately 6–10 mg a day) | Improved muscle force |