|
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants.
|
12705903 |
2003 |
|
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility.
|
12408865 |
2002 |
|
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The ubiquitin pathway in Parkinson's disease.
|
9774100 |
1998 |
|
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
|
|
0.800 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Several familial mutations of UCH-L1, namely p.Ile93Met (p.I93M), p.Glu7Ala (p.E7A), and p.Ser18Tyr (p.S18Y), are associated with PD and other neurodegenerative disorders.
|
26899237 |
2017 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
S18Y and I93M mutants, which are associated with a decreased risk or an increased risk of PD, respectively, are less stable than wild type.
|
21251915 |
2011 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
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 |
GeneticVariation
|
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
|
BEFREE |
However, the molecular mechanisms underlying sporadic PD as well as PD associated with I93M UCH-L1 are largely unknown.
|
18250096 |
2008 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our findings may provide novel insights into the molecular links between alpha-synuclein and UCH-L1 and suggest that aberrant interaction of mutant UCH-L1 with CMA machinery, at least partly, underlies the pathogenesis of PD associated with I93M UCH-L1.
|
18550537 |
2008 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
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 |
GeneticVariation
|
BEFREE |
Our study suggested that Ile93Met of UCH-L1 gene did not influence risk of IPD.
|
12775255 |
2003 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A rare Ile93Met mutation in UCH-L1 in a German PD sib-pair has been reported.
|
11027850 |
2000 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
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
|
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 |
|
Neurodegenerative Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Several familial mutations of UCH-L1, namely p.Ile93Met (p.I93M), p.Glu7Ala (p.E7A), and p.Ser18Tyr (p.S18Y), are associated with PD and other neurodegenerative disorders.
|
26899237 |
2017 |
|
Sporadic Parkinson disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We propose that aberrant interactions of UCH-L1 variants with CMA machinery, at least partly, underlie the pathogenesis of I93M UCH-L1-associated PD, and possibly of sporadic PD.
|
18635949 |
2008 |
|
PARKINSON DISEASE, LATE-ONSET
|
|
0.010 |
GeneticVariation
|
BEFREE |
Ile93Met substitution was found neither in PD patients nor in controls.
|
12775255 |
2003 |
|
Huntington Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We examined the association of HD with the I93M mutation and S18Y polymorphism in 138 HD patients and 136 control subjects, but we did not identify the I93M mutation.
|
12123845 |
2002 |