Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The role of three genes (MAPT, PARK2, UCHL1) in PD were confirmed earlier.
|
21875422 |
2011 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
UCHL-1 is not a Parkinson's disease susceptibility gene.
|
16450370 |
2006 |