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. 2022 May 2;23(9):5053. doi: 10.3390/ijms23095053

Table 3.

Examples of neurodegenerative disease-related UPS components. The disease information for each gene referenced OMIM (https://www.ncbi.nlm.nih.gov/omim). (All accessed on 1 March 2022).

Gene Name Deregulation Type Disease
Ub precursor UBB Missreading, misframed mutations AD [OMIM 191339]
E3 CHIP AD [38]
FBXO7 Loss-of-function mutations PD [OMIM 605648]
HACE1 HD [39]
HRD1 AD [40]
LRSAM1 Loss-of-function mutations PD [OMIM 610933]
NEDD4-1 AD, PD, ALS [41]
PRKN (PARK2) Loss-of-function mutations PD [OMIM 602544]
RNF182 AD [42]
TRAF6 PD [43], HD [44]
UBE3A Loss-of-function mutations AS [OMIM 601623]
DUB UCHL1 (PARK5) ↓, Loss-of-function mutations AD, PD [OMIM 191342]
USP13 PD [45]

Abbreviations: AD, Alzheimer’s disease; AS, angelman syndrome; ALS, amyotrophic lateral sclerosis; DUB, de-ubiquitinating enzymes; E3, ubiquitin ligase; HD, Huntington’s disease; PD, Parkinson’s disease; ↑, Upregulation; ↓, Downregulation.