PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
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 		0.300 Biomarker disease BEFREE Our findings highlight the importance of Pitx3-GDNF interplay in dopamine signaling and indicate that our strategy might be useful for the restoration of DAergic fate of NT2 cells to make them clinically applicable toward cell replacement therapy of PD. 31310388 2020
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 AlteredExpression disease BEFREE Here we show that using transcription factor Pitx3 null mutant (Pitx3Null) mice as a model for severe and consistent DA denervation in the dorsal striatum in Parkinson's disease, antidromically identified striatonigral neurons (D1R-expressing dSPNs) had a lower baseline spike firing rate than that in DA-intact normal mice, and these neurons increased their spike firing more strongly in Pitx3Null mice than in WT mice in response to injection of L-dopa or the D1R agonist, SKF81297; the increase in spike firing temporally coincided with the motor-stimulating effects of L-dopa and SKF81297. 30104963 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 AlteredExpression disease BEFREE Pitx3 is expressed in mDA neuron subsets of the substantia nigra compacta (SNc) and of the ventral tegmental area (VTA) that are degeneration-sensitive in PD. 27514757 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE Here we examined adult hippocampal neurogenesis in the Pitx3-mutant mouse model of PD (<i>aphakia</i> mice), which phenotypically shows a selective embryonic degeneration of dopamine neurons within the SN and to a smaller extent in the ventral tegmental area (VTA). 28883785 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 AlteredExpression disease BEFREE Additionally, MK-801 treatment protected the dopaminergic (DAergic) neurons in the nigrostriatal pathway and improved motor functions by increasing the expression of Nurr-1 and Pitx-3 in the PD model. 27977132 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE Furthermore, the PITX3 C allele carriers with PD had a poorer cognitive performance in the visuospatial domain (p<0.001) and a higher incidence of visual hallucinations. 28991698 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE The results of meta-analysis suggested that the PITX3 SNP rs3758549 was significantly associated with risk of PD in the Asian population (genotype TT+TC vs. CC, P=0.014; allele T vs. C, P=0.019) but not in the Caucasian population (genotype TT+TC vs. CC, P=0.053; allele T vs. C, P=0.251). 24394914 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 Biomarker disease BEFREE PITX3 and risk for Parkinson's disease: a systematic review and meta-analysis. 24525476 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 AlteredExpression disease BEFREE Our results provide useful information that the NURR1 and PITX3 gene expression is decreased in the PBL of Chinese patients with PD, indicating their possible systemic involvement in PD. 22309633 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE Meta-analysis was carried out to evaluate whether PITX3 gene polymorphism was associated with PD, and subgroup analysis was also performed when necessary. 22429667 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE Previous finding suggesting three SNPs (rs2281983, rs4919621 and rs3758549) in the PITX3 gene to be associated with PD could not be replicated. 22411443 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE Our results suggest that these PITX3 SNPs do not contribute to the risk of developing PD in EOPD or LOPD in Chinese. 22037506 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE These findings suggest that the PITX3 gene rs3758549 polymorphism may increase the susceptibility of PD. 21524731 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE Recent association studies indicated that three PITX3 single nucleotide polymorphisms (SNPs), including rs2281983, rs4919621, and rs3758549 are likely to be associated with PD. 21565251 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE Several polymorphisms of the Pitx3 gene have been linked with sporadic and early-onset forms of PD, but different studies have given conflicting or inconsistent findings. 21138504 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 Biomarker disease BEFREE Our findings indicate that PITX3 may play a role in the pathogenesis of PD. 19394114 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease. 21469209 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE In particular, our highly significant findings regarding the association of rs3758549 reproduce the results of the initial report on transcription factor gene variants, providing further evidence for PITX3 and EN1 polymorphisms as potential genetic risk factors for sporadic PD. 19345444 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE In contrast, a previous finding suggesting a SNP (rs3758549) in the putative promoter region of the PITX3 gene to be associated with PD could not be replicated. 18420308 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE No common PITX3 variants were associated with PD, although a rare missense change (G32S) was found in only one patient and none of the controls. 20468068 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 Biomarker disease MGD Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. 20033184 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 AlteredExpression disease BEFREE The role of transcription factor Pitx3 in dopamine neuron development and Parkinson's disease. 19754401 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 AlteredExpression disease BEFREE An allele-dependent dysregulation of PITX3 expression might contribute to the susceptibility to PD. 17905480 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 AlteredExpression disease BEFREE Such specific expression of the Pitx3 promoter may be used for gene therapy studies of Parkinson's disease. 18049867 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 Biomarker disease MGD 3,4-dihydroxyphenylalanine reverses the motor deficits in Pitx3-deficient aphakia mice: behavioral characterization of a novel genetic model of Parkinson's disease. 15728853 2005