|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The potential importance of this pathway is also highlighted by the finding of a mutation in the gene for ubiquitin C-terminal hydrolase L1 in another small family with PD.
|
11697518 |
2001 |
|
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 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the alpha-synuclein, parkin, and ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) genes have been linked to some cases of familial Parkinson's disease.
|
10665491 |
2000 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study suggests that the S18Y polymorphism in UCH-L1 does not influence the risk for developing PD.
|
11027850 |
2000 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
These data suggest that UCH-L1 hydrolase activity may be inversely correlated with Parkinson's disease risk and that the hydrolase activity is protective against the disease.
|
12705903 |
2003 |
|
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 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
UCHL-1 is not a Parkinson's disease susceptibility gene.
|
16450370 |
2006 |
|
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 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review discusses the role of the UPS, as well as the modus operandi of the three PD candidate felons (alpha-synuclein, parkin, and UCHL1) along with their conspirators in bringing about dopaminergic cell death in PD.
|
12846976 |
2003 |
|
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 |
|
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 |
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 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in four genes, alpha-synuclein, parkin, DJ-1, and UCH-L1, have been identified in autosomal inherited forms of PD.
|
15207921 |
2004 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Derangements in parkin function as well as mutations in UCH-L1 fit with the notion that derangements in the ubiquitin proteasomal pathway (UPP) may play important roles in the demise of dopamine neurons in PD.
|
14579120 |
2003 |
|
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 |
|
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 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
UCH-L1 S18Y polymorphism, however, may be a weak protective factor against early-onset PD.
|
12210873 |
2002 |
|
Parkinson Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The expression domain of uch-L1 overlaps with that of tyrosine hydroxylase, a molecular marker for dopaminergic neurons, in the ventral diencephalon, an equivalent structure to the substantia nigra where PD progresses in human.
|
14680807 |
2003 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that the presence of 18Tyr allele and 18Tyr/Tyr homozygosity in the UCH-L1 gene is associated with a reduced risk for development of sporadic PD in a Japanese population, supporting the previous observations on sporadic PD in Caucasian populations.
|
11535241 |
2001 |
|
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 |
|
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 |
In conclusion, the results indicate that the significant DEGs, including UCHL1, PDPK1 and PRKACB may be associated with the development of PD.
|
28765971 |
2017 |