|
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 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found that homozygosity for the V66M polymorphism of the brain-derived neurotrophic factor (BDNF) gene occurs more frequently in patients with Parkinson's disease than in unaffected controls (chi(2) = 5.46) and confirmed an association with the S18Y polymorphism of the UCH-L1 gene.
|
11782995 |
2002 |
|
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 |
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 |
|
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 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A coding substitution (I93M) in the ubiquitin carboxy-terminal L1 (UCH-L1) gene has recently been identified in a German family with Parkinson's disease.
|
10203348 |
1999 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This search included the S18Y variant of UCHL-1, which has been reported to be protective in Parkinson's disease.
|
16007636 |
2005 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
S18Y polymorphism in the UCH-L1 gene and Parkinson's disease: evidence for an age-dependent relationship.
|
12539205 |
2003 |
|
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 |
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 |
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 |
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 |
LHGDN |
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 |
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 |
There were no significant interactions between UCHL1 S18Y and smoking or caffeine intake affecting sporadic PD.
|
22839974 |
2012 |
|
Parkinson Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, UCHL-1 mRNA and protein expressions were reduced in the medulla oblongata in the same PD cases.
|
16380264 |
2006 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Furthermore, UCH-L1 accumulation is likely to play a pathological role in inclusion formation in Parkinson's disease.
|
15228595 |
2004 |
|
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 |
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 |
|
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 |
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 |
In the present study, we demonstrated that UCH-L1 associates with lipid rafts as with other PD-associated gene products.
|
30429647 |
2018 |
|
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 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 |