|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We conclude that the UCH-L1 gene is not a major gene responsible for familial PD.
|
10454131 |
1999 |
|
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 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Important issues regarding UCHL-1 and its role in PD remain inconclusive, especially regarding the pathogenicity of the mendelian I93M mutation.
|
15221445 |
2004 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Because ubiquitin accumulates in LBs, and parkin and UCH-L1 also interact with the ubiquitin proteasomal system, proteasomal dysfunction is thought to contribute to the pathophysiology of PD.
|
15655264 |
2004 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A polymorphic variant of UCH-L1 that is associated with decreased PD risk (S18Y) has reduced ligase activity but comparable hydrolase activity as the wild-type enzyme.
|
12408865 |
2002 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The effect of Parkinson's-disease-associated mutations on the deubiquitinating enzyme UCH-L1.
|
21251915 |
2011 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Similarly, mutations in two enzymes involved in the normal function of the ubiquitin-proteasome system, parkin and ubiquitin C-terminal hydrolase L1, are also associated with hereditary PD.
|
12666100 |
2003 |
|
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 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, ubiquitin carboxy terminal hydrolase L1 (UCHL1) gene is responsible for an autosomal dominant form of typical PD, although only a single family has so far been identified with a mutation of this gene.
|
14579118 |
2003 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
LHGDN |
Furthermore, UCH-L1 accumulation is likely to play a pathological role in inclusion formation in Parkinson's disease.
|
15228595 |
2004 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
For women only, we observed an epistatic interaction of UCHL1 and alpha-synuclein genotypes with significant effects on PD risk (odds ratio = 2.42; P = 0.003).
|
12784265 |
2003 |
|
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 |
|
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 |
|
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 |
|
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 |
The role of three genes (MAPT, PARK2, UCHL1) in PD were confirmed earlier.
|
21875422 |
2011 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
A polymorphic variant of UCH-L1 that is associated with decreased PD risk (S18Y) has reduced ligase activity but comparable hydrolase activity as the wild-type enzyme.
|
12408865 |
2002 |
|
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 |
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 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We provided an independent confirmation of the protective effect of the UCHL1 S18Y variant (Y/Y genotype) against PD in young Chinese subjects.
|
16941465 |
2006 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
In this light, we performed a collaborative pooled analysis of individual-level data from all 11 published studies of the UCHL1 S18Y gene variant and PD.
|
15048890 |
2004 |
|
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 |
|
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 |
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 |