|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our data also suggest that ATP13A2 single heterozygous mutations might be etiologically relevant for patients with YOPD and further studies of this gene in Parkinson disease are warranted.
|
17485642 |
2007 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Some of them are implicated in the development of either autosomal dominant (alpha-synuclein and LRRK2 (leucine-rich repeat kinase 2/dardarin) or early-onset recessive (parkin, DJ-1, PINK1 (PTEN-induced kinase-1) and ATP13A2) PD forms.
|
18045143 |
2007 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Our data also suggest that ATP13A2 single heterozygous mutations might be etiologically relevant for patients with YOPD and further studies of this gene in Parkinson disease are warranted.
|
17485642 |
2007 |
|
Parkinson Disease
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
ATP13A2 encodes a lysosomal ATPase and shows elevated expression levels in the brains of sporadic patients, suggesting a potential role in the more common idiopathic Parkinson's disease.
|
17620882 |
2007 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
|
19015489 |
2008 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
|
19015489 |
2008 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Both autosomal dominant and recessive forms of inherited PD are described, associated with four genes (Parkin, PINK1, LRRK2, and PARK9).
|
18442138 |
2008 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The strongest case for a genetic contribution to PD was made by the discovery of mutations in single genes that can cause autosomal dominant (alpha-synuclein (SNCA)) and leucine rich repeat kinase 2 (LRRK2) gene) or recessive (Parkin, PTEN-induced putative kinase 1 (PINK1), DJ-1, and ATP13A2 gene) forms of PD.
|
19409223 |
2009 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in these genes potentially lead to autosomal dominant (alpha-synuclein and LRRK2), or autosomal recessive PD (Parkin, PINK1, DJ1, and ATP13A2).
|
19943343 |
2009 |
|
Parkinson Disease
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
ATP13A2 mRNA expression was also quantified in brain tissues from 38 patients with nonfamilial PD and 38 healthy subjects from the United States.
|
19085912 |
2009 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that two mutated ATP13A2 alleles are not a common cause of PD.
|
19705361 |
2009 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese.
|
20976737 |
2010 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Considering the scarcity of studies on GIGYF2, ATP13A2 and GBA mutation frequency in Latin American countries, we present significant data about the contribution of these genes to PD susceptibility.
|
20816920 |
2010 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.
|
21060012 |
2010 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Using voxel-based morphometry in 30 asymptomatic mutation carriers (MC) with mutations in four different genes for PD and 100 healthy controls, we identified an increase in gray matter volume (GMV) in the striatum in asymptomatic Parkin, PINK1, ATP13A2 and, to a much lesser extent, in LRRK2 MC.
|
20483373 |
2010 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China.
|
20227461 |
2010 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Sequence or copy number variants in at least six genes (SNCA, LRRK2, PARK2, PINK1, DJ-1 and ATP13A2) have been identified to cause monogenic forms of PD.
|
21810464 |
2011 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Some lysosomal hydrolases, such as glucocerebrosidase gene and ATP13A2, a lysosomal ATPase gene, have been implicated in PD.
|
21683120 |
2011 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
ATP13A2 cDNA fragments from 65 early onset PD (onset <50 years) were sequenced.
|
21714071 |
2011 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The SNPs investigated in the BST1, PARK15 and PARK9 genes associated with PD susceptibility are not associated with PD in the northern Han Chinese population.
|
22490479 |
2012 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
The role of the Parkinson's disease gene PARK9 in essential cellular pathways and the manganese homeostasis network in yeast.
|
22457822 |
2012 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Altogether, our results validate ATP13A2 as a likely therapeutic target against PD degeneration.
|
22885599 |
2012 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in several genes including ATP13A2 (PARK9) are reported to be associated with PD.
|
22288903 |
2012 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
CTD_human |
Down-regulation of LRRK2 in control and DAT transfected HEK cells increases manganese-induced oxidative stress and cell toxicity.
|
23628791 |
2013 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We suggest that the ATP13A2 Ala746Thr variant is not a common risk factor for PD in the Chinese population in Hong Kong.
|
23522931 |
2013 |