UCHL1, ubiquitin C-terminal hydrolase L1, 7345

N. diseases: 260; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE The knockdown of the UCH-L1 in <i>Drosophila</i> can be used in studying the epidemiology of the disease as well as in drug screening for finding therapeutic targets for PD. 31585883 2020
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 AlteredExpression disease BEFREE This suggests that pink1, atp13a2 and uchl1 expressions are regulated by inflammation, and this regulatory mechanism might be involved in the progress of PD. 31201839 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Mechanistic studies in mice suggest the existence of multiple molecular contributors to the neuroprotective effects of NAPE-PLD deletion, including suppression of Rac1 activity and attenuated transcription of several genes (Cadps, Casp9, Egln1, Kcnj6, Spen, and Uchl1) implicated in dopamine neuron survival and/or Parkinson's disease. 31685899 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Our findings, while drawn from a relatively small sample size, suggest that deregulation of APA may play a significant role in neurodegeneration by altering the expression of genes including UBR1 and OGDHL in AD, LONP1 in PD and UCHL1 in ALS. 31072331 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE We herein modeled the study of UCHL1 in Drosophila melanogaster and investigated its functions in PD. 29535397 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Interestingly, a Parkinson's disease related mutant UCHL1 I93 M defects its DUB activity and can no longer inhibit autophagosome formation. 29462615 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE In the present study, we demonstrated that UCH-L1 associates with lipid rafts as with other PD-associated gene products. 30429647 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE We found connections between copper dyshomeostasis and the UCHL1/PARK5 pathway of Parkinson disease, which we validated with mitochondrial respiration and Drosophila genetics assays. 29397366 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Finally, we summarize the effect of these genetic mutations and post-translational modifications on the association of UCHL1 and PD in terms of loss of cellular functions or gain of cellular toxicity. 26899237 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE In conclusion, the results indicate that the significant DEGs, including UCHL1, PDPK1 and PRKACB may be associated with the development of PD. 28765971 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE We report here that UCHL1 undergoes S-nitrosylation in vitro and rotenone induced PD mouse model. 28300150 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Ubiquitin C-terminal hydrolase L1 (UCH-L1) is a key neuronal deubiquitinating enzyme which is mutated in Parkinson disease (PD) and in childhood-onset neurodegenerative disorder with optic atrophy. 25403879 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE In conclusion, our meta-analysis suggests that UCHL1 S18Y polymorphism is moderately associated with susceptibility to PD, and more studies are needed to confirm our conclusion. 25370916 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE These results suggest that NT-UCH-L1 may have the potential to prevent neural damage in diseases like PD. 24959670 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE To our knowledge, this is the latest and largest meta-analysis assessing the association of the UCHL-1 S18Y variant with the risk of PD in Asian ancestry.© 2014 S. Karger AG, Basel. 25471998 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 AlteredExpression disease BEFREE We identified that elevated alpha-synuclein messenger RNA levels in SN DA neurons of human PD brains were positively correlated with corresponding elevated levels of mRNAs for functional compensation of progressive SN DA loss and for enhanced proteasomal (PARK5/UCHL1) and lysosomal (PARK9/ATPase13A2) function, possibly counteracting alpha-synuclein toxicity. 24742361 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Thus, the current meta-analysis suggests no evidence for the association between the UCHL1 S18Y polymorphism and PD risk in the Asian population, especially in subgroups of ethnicity and age at onset. 25354657 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 AlteredExpression disease BEFREE Furthermore, in the context of a-syn-induced pathology, modulation of UCH-L1 activity could serve as a therapeutic tool to enhance the autophagy pathway and induce clearance of the observed accumulated/aggregated a-syn species in the PD brain. 22514658 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Lack of genetic association of the UCHL1 gene with Alzheimer's disease and Parkinson's disease with dementia. 22688354 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE There were no significant interactions between UCHL1 S18Y and smoking or caffeine intake affecting sporadic PD. 22839974 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Overall, these data provide evidence for an antioxidant and neuroprotective effect of the S18Y variant of UCH-L1, but not of the WT protein, in the dopaminergic system, and may have implications for the pathogenesis of PD or related neurodegenerative conditions, in which oxidative stress might play a role. 22076440 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE In several previous studies, an S18Y (C54A) polymorphism in exon 3 of the UCH-L1 gene has been found to be protective against PD. 21315600 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE The effect of Parkinson's-disease-associated mutations on the deubiquitinating enzyme UCH-L1. 21251915 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE To further explore the role of UCHL1 in PD, we genotyped S18Y in 605 PD patients and 1620 controls of Japanese ancestry. 21345711 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE We found that the Parkinson's disease-associated mutation I93M in UCH-L1 decreased the secretion of I93M UCH-L1. 21693148 2011