Table 1. Disease-associated mutations of proteostasis network components.

Gene	Protein	Function	Disease	Reference
SOD1	SOD1	Superoxide dismutase	ALS	155
UBQLN2	Ubiquilin-2	Ubiquitin-like protein	ALS	156
CRYAA	α-Crystallin	Small HSP	Early-onset cataracts	157
HSPD1	HSP60	Mitochondrial Chaperone	Hereditary spastic paraplegia	158
ATXN3	Ataxin-3	Deubiquitylase	SCA3/MJD	159
PARK1	Parkin	E3 ubiquitin ligase	PD	160
CRYAB	α-Crystallin	Small HSP	Desmin-related myopathy, cardiomyopathy	161
SACS	Sacsin	DNAJ chaperone	Spastic ataxia	162
HSPB1	HSP27	Small HSP	Charcot–Marie–Tooth disease	163
VCP	VCP	AAA ATPase involved in ERAD	Paget disease and FTD	164
SIL1	SIL1	ER-associated nucleotide exchange factor	Marinesco–Sjogren syndrome	165, 166
HSPB8	HSP22	Small HSP	Charcot–Marie–Tooth disease type 2L	167
DNAJC19	TIMM14	Mitochondrial import	DCMA syndrome	168
HSPA9	Mortalin	Mitochondrial HSP70	PD	169
HSPA8	HSC70	Protein folding	Cardiovascular disease	170
PSMB8	PSMB8	Proteasomal subunit	Nakajo–Nishimura syndrome	171
DNAJB2	HSJ1	Neuronal DNAJ chaperone	Distal hereditary motor neuropathy	172
DNAJC6	Auxilin	Clathrin uncoating	Juvenile parkinsonism	173
DNAJB6	DNAJB6	Protein folding	Dominantly inherited myopathy	174
SQSTM1	p62	Autophagy	Paget's disease, ALS	175
DNAJC13	RME8	Receptor-mediated endocytosis	PD	176
P4HB	PDI	Protein disulfide isomerase	ALS	177
UBE3A	UBE3A	E3 ubiquitin ligase	Angelman syndrome	178

Abbreviations: ALS, amyotrophic lateral sclerosis; ERAD, endoplasmic reticulum (ER)-associated degradation; FTD, frontotemporal dementia; HSP, heat shock protein; MJD, Machado–Joseph disease; PD, Parkinson's disease; SCA, spinocerebellar ataxia; VCP, valosine-containing protein.