ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Disease: Parkinson Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE Our data indicate that ATP13A2 is the first PD-associated gene involved in exosome biogenesis and indicates a potential neuroprotective role of exosomes in PD. 24603074 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction. 24399444 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Here we review current knowledge about the ATP13A2 gene, clinical characteristics of patients with PD-associated ATP13A2 mutations, and models of how the ATP13A2 protein may help prevent neurodegeneration by inhibiting α-synuclein aggregation and supporting normal lysosomal and mitochondrial function. 25197640 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease CTD_human Correlation between the biochemical pathways altered by mutated parkinson-related genes and chronic exposure to manganese. 25149416 2014
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Protected Ac-PDEKHEL-NH(2) (PK9-H) and Ac-FCGDGANDCG-NH(2) (PK9-C) peptide fragments corresponding to sequences from residues 1165 to 1171 and 1184 to 1193, respectively, in the Park9 encoded protein from Parkinson's disease gene were tested for their protonation and complex formation capabilities with Cu(II), Zn(II) and Mn(II) ions by potentiometric and UV-Vis measurements. 23202360 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE Conversely, mutations in lysosomal-related genes, such as glucocerebrosidase (GBA) and lysosomal type 5 P-type ATPase (ATP13A2), have been linked to PD. 23580333 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Mutations of the human gene ATP13A2 underlie a form of PD (Parkinson's disease). 23205587 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE The molecular investigations of proteins encoded by PD-linked genes have clarified that ADPD is associated with α-synuclein and LRRK2, while ARPD is linked to Parkin, PINK1, DJ1, and ATP13A2. 23127617 2013
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE Altogether, our results validate ATP13A2 as a likely therapeutic target against PD degeneration. 22885599 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Mutations in several genes including ATP13A2 (PARK9) are reported to be associated with PD. 22288903 2012
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE ATP13A2 cDNA fragments from 65 early onset PD (onset <50 years) were sequenced. 21714071 2011
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease GENOMICS_ENGLAND Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. 21060012 2010
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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
CUI: C0030567
Disease: Parkinson Disease
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