Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
By contrast, in familial cases of parkinsonism without Lewy bodies, such as in PARK2, the autonomic profile remains normal throughout the course of the disease.
|
29508456 |
2018 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the GCH1 gene are the most common cause of DRD, however, in some cases when the disease is associated with parkinsonism mutations in the PARK2 gene may be identified.
|
27667361 |
2017 |
Parkinsonian Disorders
|
0.500 |
PosttranslationalModification
|
group |
BEFREE |
The present study suggests that Mn-induced alteration of DNA methylation of PINK1-PARK2 may influence mitochondrial function and promote Parkinsonism.
|
27913844 |
2017 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Parkin disease (PARK2, OMIM 602544) is an autosomal-recessive early-onset parkinsonism characterized by an early occurrence of lower limb dystonia.
|
27383763 |
2016 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
A recurrent mutation in PARK2 is associated with familial lung cancer.
|
25640678 |
2015 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
PARK2 (PARKIN) is an E3 ubiquitin ligase whose dysfunction has been associated with the progression of Parkinsonism and human malignancies, and its role in cancer remains to be explored.
|
25877876 |
2015 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells.
|
26558463 |
2015 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
Mutations in the PARK2 and PARK6 genes, coding for the cytosolic E3 ubiquitin protein ligase Parkin and the mitochondrial serine/threonine kinase PINK1 [phosphatase and tensin homologue (PTEN)-induced putative kinase 1], lead to clinically similar early-onset Parkinsonian syndromes.
|
25849933 |
2015 |
Parkinsonian Disorders
|
0.500 |
Therapeutic
|
group |
CTD_human |
Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells.
|
26558463 |
2015 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations of parkin gene are not restricted to familial forms of Parkinsonism but they also occur in a wide variety of malignancies including gliomas.
|
26238155 |
2015 |
Parkinsonian Disorders
|
0.500 |
Therapeutic
|
group |
CTD_human |
A recurrent mutation in PARK2 is associated with familial lung cancer.
|
25640678 |
2015 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
PINK1 (PTEN induced putative kinase 1) and PARKIN (also known as PARK2) have been identified as the causal genes responsible for hereditary recessive early-onset Parkinsonism.
|
24784582 |
2014 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
Dysfunction of PARK2 is associated with the progression of parkinsonism.
|
24297497 |
2014 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
PINK1 and PARKIN are causal genes for hereditary Parkinsonism.
|
23751051 |
2013 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene encoding parkin (PARK2) are the most common cause of autosomal recessive juvenile-onset and young-onset parkinsonism.
|
23459986 |
2013 |
Parkinsonian Disorders
|
0.500 |
Therapeutic
|
group |
CTD_human |
Low doses of paraquat and polyphenols prolong life span and locomotor activity in knock-down parkin Drosophila melanogaster exposed to oxidative stress stimuli: implication in autosomal recessive juvenile parkinsonism.
|
23046578 |
2013 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
Low doses of paraquat and polyphenols prolong life span and locomotor activity in knock-down parkin Drosophila melanogaster exposed to oxidative stress stimuli: implication in autosomal recessive juvenile parkinsonism.
|
23046578 |
2013 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the Parkin gene (PARK2) are the major cause of autosomal recessive early-onset parkinsonism.
|
24244333 |
2013 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the parkin gene, which encodes a ubiquitin ligase, are a major genetic cause of parkinsonism.
|
22431710 |
2012 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In three forms, caused by mutations in parkin (PARK2), PINK1 (PARK6), or DJ-1 (PARK7), the phenotype is usually characterized by levodopa-responsive parkinsonism without atypical features.
|
22166450 |
2012 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Genetic screening reveals high frequency of PARK2 mutations and reduced Parkin expression conferring risk for Parkinsonism in North West India.
|
19734163 |
2010 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
On careful review, we found the FBXO7 cases to have a phenotype more similar to PRKN gene associated parkinsonism.
|
20669327 |
2010 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Although mutations in the parkin gene are frequently associated with familial Parkinsonism, emerging evidence suggests that parkin also plays a role in cancers as a putative tumor suppressor.
|
20630868 |
2010 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The mutations in the parkin gene can lead to a loss of function of parkin and cause autosomal recessive juvenile onset parkinsonism.
|
20889974 |
2010 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Parkin gene mutations are the most common cause of early-onset parkinsonism.
|
20625164 |
2010 |