|
Parkinson Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Additionally, phosphatidylinositol-3-kinase (<i>PI3K</i>)/mammalian target of rapamycin (<i>mTOR</i>) expression were activated, and ubiquitin carboxy-terminal hydrolase L1 (<i>UCH-L1</i>) expression was upregulated in the EX-PD group.
|
31309116 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association between ubiquitin carboxy-terminal hydrolase-L1 S18Y variant and risk of Parkinson's disease: the impact of ethnicity and onset age.
|
25370916 |
2015 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene has been implicated in the etiology of Parkinson's disease (PD).
|
25471998 |
2014 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) is an intracellular protein abundantly expressed in neurons, and a mutation in UCH-L1 has been identified in familial Parkinson's disease.
|
21693148 |
2011 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The ubiquitin carboxy-terminal hydrolase L1 gene (UCH-L1) has been implicated in the etiology of Parkinson's disease (PD).
|
21315600 |
2011 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The inverse association of the functional ubiquitin carboxy-terminal hydrolase L1 (UCHL1) S18Y variant with Parkinson's disease (PD) among Caucasian populations has been debated.
|
19329225 |
2010 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The rare inherited form of Parkinson's disease (PD), PARK5, is caused by a missense mutation in ubiquitin carboxy-terminal hydrolase-L1 (UCH-L1) gene, resulting in Ile93Met substitution in its gene product (UCH-L1(Ile93Met)).
|
19141079 |
2009 |
|
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 |
A recent meta-analysis observed a greater significant inverse association of the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) S18Y variant with Parkinson's disease (PD) for Asian (predominantly Japanese) populations compared with Caucasian populations.
|
16941465 |
2006 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The reported inverse association between the S18Y variant of the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) gene and Parkinson's disease (PD) has strong biological plausibility.
|
15048890 |
2004 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To ascertain whether a coding mutation (Ile93Met) in ubiquitin carboxy-terminal hydrolase (UCH-L1) gene plays a role in idiopathic Parkinson's disease (IPD).
|
12775255 |
2003 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The identification of pathogenic mutations in the three genes alpha-synuclein, parkin, and ubiquitin carboxy-terminal hydrolase L1 (UCHL1) has elucidated the ubiquitin proteasome system (UPS) and its potential role as a causal pathway in Parkinson's disease (PD).
|
12784265 |
2003 |
|
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 |
BEFREE |
alpha1-Antichymotrypsin (ACT) and ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) have been suggested as susceptibility factors for Parkinson's disease (PD).
|
12210873 |
2002 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations have now been identified in the alpha-synuclein (4q21.3-23), parkin (6q25.2-27), and ubiquitin carboxy terminal hydrolase-L1 (4p16.3) genes in families with Parkinson's disease.
|
12217636 |
2002 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease.
|
11716150 |
2001 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease.
|
11027850 |
2000 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Expression of alpha-synuclein, parkin, and ubiquitin carboxy-terminal hydrolase L1 mRNA in human brain: genes associated with familial Parkinson's disease.
|
10665491 |
2000 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, ubiquitin carboxy terminal hydrolase L1 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, and tau has been identified as a causative gene for frontotemporal dementia and parkinsonism.
|
11205133 |
2000 |
|
Parkinson Disease
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease.
|
10563640 |
1999 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.
|
10454131 |
1999 |