rs121917767, UCHL1

N. diseases: 6
Disease: Parkinson Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinson Disease
CUI: C0030567
Disease: 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
CUI: C0030567
Disease: 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
CUI: C0030567
Disease: 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
CUI: C0030567
Disease: 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
CUI: C0030567
Disease: 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
CUI: C0030567
Disease: 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
CUI: C0030567
Disease: 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
CUI: C0030567
Disease: 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
CUI: C0030567
Disease: 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
CUI: C0030567
Disease: 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
CUI: C0030567
Disease: 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