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 role of three genes (MAPT, PARK2, UCHL1) in PD were confirmed earlier. 21875422 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE A protective role of the p.S18Y polymorphism of the UCHL1 gene has been shown in Parkinson`s disease. 21268678 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Aberrant function of UCH-L1 has been associated with neurological disorders such as Parkinson's disease and Alzheimer's disease. 21878121 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Only MAPT SNP rs2435200 was associated with PD susceptibility after correction for multiple testing (OR = 0.74, 95% CI = 0.64-0.86, uncorrected P < 0.0001, log additive model); however, 16 additional MAPT variants, seven SNCA variants, and one LRRK2, PARK2, and UCHL1 variants each had significant uncorrected P-values. 21412835 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE A multivariate logistic regression analysis showed that family history, UCHL1 variant and the interaction of UCHL1 variant and age at onset (p=0.816) were not significantly associated with PD. 19329225 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE The evidence that mutations in the UCHL1/PGP 9.5 gene lead to either significant susceptibility to or protection from Parkinson's disease (or other human neurodegenerative disorders) is weak. 19879917 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Our results suggest that USP24 alone plays a role in PD susceptibility among Taiwanese people >or=60 years of age, or acting synergistically with USP40 and UCHL1 in the total subjects. 20302855 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE UCHL1 (ubiquitin carboxyl-terminal hydrolase 1 gene) was analyzed in the frontal cortex of controls and those with Parkinson disease and related synucleinopathies. 19606065 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE The authors conducted a Human Genome Epidemiology review and meta-analysis of published case-control studies of the UCHL1 S18Y variant and Parkinson's disease in Asian and Caucasian samples. 19864305 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Our results support the hypothesis that PARK5 is caused by a gain-of-toxic-function of UCH-L1(Ile93Met) mutant, and suggest that regulation of UCH-L1 in nigral DA cells could be a future target for treatment of PD. 19141079 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease LHGDN To study the association of two polymorphisms of ubiquitin carboxy-terminal hydrolase-L1 gene(UCH-L1), the 54C/A in exon 3 and the 277C/G in exon 4, with sporadic Parkinson's disease(PD) in Hans from North China. 18841579 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE The objective of this study was to explore combined effects of four candidate susceptibility genes and two exposures on Parkinson's disease (PD) risk; namely, alpha-synuclein (SNCA) promoter polymorphism REP1, microtubule-associated protein tau (MAPT) H1/H2 haplotypes, apolipoprotein E (APOE) epsilon2/epsilon3/epsilon4 polymorphism, ubiquitin carboxy-terminal esterase L1 (UCHL1) S18Y variant, cigarette smoking and caffeinated coffee consumption. 18210157 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE UCH-L1 is abundant (1-5% of total soluble protein) in the brain and is a major target of oxidative/carbonyl damage associated with sporadic PD. 18250096 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE However, the relationship between alpha-synuclein and UCH-L1 in the pathogenesis of PD has remained largely unclear. 18550537 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE LRRK2, alpha-synuclein, UCH-L1 and DJ-1 are implicated in the etiology of Parkinson's disease. 18790059 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease LHGDN Here we show that familial PD-associated mutant UCH-L1 and carbonyl-modified UCH-L1 display shared aberrant properties: compared with wild-type UCH-L1, they exhibit increased insolubility and elevated interactions with multiple proteins, which are characteristics of several neurodegenerative diseases-linked mutants. 18250096 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Our results suggest that UCHL1 S18Y is not a major susceptibility factor for PD in white populations although we cannot exclude the possibility that the S18Y variant exerts weak effects on risk, particularly in early-onset disease. 18093156 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE Lack of evidence for association of a UCH-L1 S18Y polymorphism with Parkinson's disease in a Han-Chinese population. 18638528 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE We conclude that DJ-1 and UCH-L1, like other genes linked to PD, are not expressed specifically in DA neurons, but instead generally in neurons. 17599367 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE Mutants of alpha-synuclein, Uch-L1 and Parkin support the involvement of UPS dysfunction in PD. 17521740 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation disease BEFREE S18Y in ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) associated with decreased risk of Parkinson's disease in Sweden. 17287139 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 AlteredExpression disease BEFREE UCHL1 is expressed in neurons, and abnormalities in UCHL1 are responsible for inherited Parkinson's disease via its effects on the ubiquitin-proteasome system. 17690318 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 AlteredExpression disease BEFREE This review focuses on recent findings on the functions and the regulation of UCH-L1, in particular those that relate to PD and AD. 17586089 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 AlteredExpression disease BEFREE In contrast, alpha-synuclein and ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) gene expression levels were significantly reduced in both the lateral and medial SN in PD. 17203291 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker disease BEFREE UCHL-1 is not a Parkinson's disease susceptibility gene. 16450370 2006