| Chaperone mutations |
|
| α-Crystallin |
Early cataracts, desmin-associated myopathy, cardiomyopathy |
| DNAJB6 |
Hereditary myopathy |
| HSC70 |
Cardiovascular disease |
| HSJ1 |
Motor neuropathy (distal hereditary, dHMN) |
| HSP22, HSP27 |
Charcot–Marie–Tooth disorder |
| Sacsin |
Spastic ataxia |
| Ubiquitin-proteasome system mutations |
|
| Ataxin-3 |
Machado–Joseph disorder |
| PSMB8 |
Nakajo–Nishimura
syndrome |
| Ubiquilin-2 |
Amyotrophic lateral
sclerosis (ALS) |
| UCHL1 |
Parkinson’s disease |
| VCP/p97
(ERAD) |
Paget’s disease, frontotemporal dementia |
| Autophagy system mutations |
|
| ATG16L1 |
Crohn’s disease |
| LAMP2A |
Cardiovascular disease,
myopathy |
| p62 |
ALS, Paget’s disease |
| Parkin, PINK1 (mitophagy) |
Parkinson’s
disease |
| Presenilin-1 |
Familial Alzheimer’s
disease |
