Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human Parkin gene, PRKN, leads to degeneration of dopaminergic (DA) neurons, resulting in autosomal recessive early-onset parkinsonism and the loss of PRKN function is linked to sporadic Parkinson's disease (PD).
|
31404530 |
2019 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we investigated their role in eye movement preparation in sporadic Parkinson's disease and in a very infrequent variant affecting the Parkin gene.
|
29769545 |
2018 |
Sporadic Parkinson disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In addition, gene knock-down/out of MIDN caused down-regulation of parkin E3 ubiquitin ligase, indicating MIDN to be a novel PD-risk factor or causative gene.
|
29311479 |
2018 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene.
|
27798970 |
2017 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Exon dosage analysis of parkin gene in Chinese sporadic Parkinson's disease.
|
26240990 |
2015 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed a heterozygous PARKIN exon 3-4 deletion, also present in 2 family members with early-onset PD.
|
24375549 |
2014 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease.
|
21915905 |
2012 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the parkin gene cause autosomal-recessive, juvenile-onset parkinsonism, and parkin dysfunction may also play a role in the pathogenesis of sporadic Parkinson disease (PD).
|
19050041 |
2009 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Geographic and ethnic differences in frequencies of two polymorphisms (D/N394 and L/I272) of the parkin gene in sporadic Parkinson's disease.
|
16269266 |
2005 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Similar results were obtained when the cells were treated with a proteasome inhibitor, MG132.Furthermore, in a case control study involving 753 subjects, we demonstrated that the parkin promoter -258G variant was associated with an increased risk of sporadic Parkinson's disease (PD) in the elderly ethnic Chinese population.
|
16244875 |
2005 |
Sporadic Parkinson disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Nitrosative stress linked to sporadic Parkinson's disease: S-nitrosylation of parkin regulates its E3 ubiquitin ligase activity.
|
15252205 |
2004 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast to reports in oriental populations, our results do not support a major role of APOE, PARKIN and COMT polymorphisms in PD susceptibility in the Finnish population.
|
12270650 |
2002 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms of the parkin gene in sporadic Parkinson's disease among Chinese in Taiwan.
|
10965160 |
2000 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Polymorphism in the parkin gene in sporadic Parkinson's disease.
|
10319889 |
1999 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease.
|
10511432 |
1999 |