Ask about this productRelated genes to: PARK7 Blocking Peptide
- Gene:
- PARK7 NIH gene
- Name:
- Parkinsonism associated deglycase
- Previous symbol:
- -
- Synonyms:
- DJ-1, DJ1, GATD2
- Chromosome:
- 1p36.23
- Locus Type:
- gene with protein product
- Date approved:
- 2001-08-07
- Date modifiied:
- 2018-07-11
Related products to: PARK7 Blocking Peptide
Related articles to: PARK7 Blocking Peptide
- Parkinson's disease (PD) is clinically heterogeneous, yet the genetic architecture underlying this heterogeneity remains incompletely understood. We examined the genetic correlates of four complementary PD subtyping frameworks: the clinical motor subtype (tremor-dominant [TD] vs. postural instability/gait difficulty [PIGD]), alpha-synuclein seed amplification assay status (SAA+ vs. SAA-), the pathological subtype (brain-first vs. body-first, based on the presence of REM sleep behavior disorder), and the data-driven subtype (diffuse malignant [DM] vs. mild-motor predominant [MMP] vs. intermediate [IM]). We analyzed 1390 PD patients from the Parkinson's Progression Markers Initiative (PPMI) with genotypes available for seven PD-associated genes (, , , , , , ), including specific variant resolutions (, ; , severe variants; ), and (ε2/ε3/ε4 alleles). Genetic variant frequencies were compared across subtypes using chi-square or Fisher's exact tests with the Benjamini-Hochberg false discovery rate (FDR) correction. Effect sizes were quantified using Cramér's V. multivariable logistic regression estimated adjusted odds ratios with Wald-based 95% confidence intervals. Among genotyped PD patients, carriers constituted 13.7% (190/1390; 170 , 18 ), 8.6% (119/1390; 96 , 23 severe), and 2.0% (28/1390; all ). ε4 carriers comprised 23.4% (323/1380). SAA-negative patients were markedly enriched for variants (37.1% vs. 10.2%, = 3.7 × 10, q < 0.001, V = 0.25), specifically (28.5% vs. 9.6%, = 4.9 × 10, q < 0.001) and (7.9% vs. 0.5%, = 2.7 × 10, q < 0.001). Body-first PD was enriched for carriers (12.3% vs. 6.7%, = 0.004, q = 0.021) and had less carriers (7.9% vs. 15.0%, = 0.002, q = 0.013). The DM subtype had the highest frequency (14.0% vs. MMP 5.9%, < 0.001, q = 0.003). After FDR correction, 10 out of 48 univariate tests remained significant. Clinical subtypes (TD vs. PIGD) showed only nominal differences that did not survive FDR correction. The genotype did not differ across any framework. PD subtypes defined by alpha-synuclein pathology (SAA), pathological onset pattern (brain-first/body-first), and data-driven classification (DM/MMP/IM) show distinct genetic profiles that survive multiple comparison correction. variants strongly associate with SAA negativity (V = 0.25); variants associate with the severe body-first onset and the diffuse malignant subtype. - Source: PubMed
Publication date: 2026/04/13
Negida AhmedAbouelmagd Moaz ElsayedHamed Belal MohamedHawas YousefDziri AyaNegida YasminBerman Brian DBarrett Matthew J - Diabetic nephropathy (DN) is a major diabetic complication, and while DJ-1 has been shown to mitigate renal ischemia/reperfusion injury, its role in high glucose-induced podocyte damage remains unclear. This study aimed to investigate the function and mechanism of DJ-1 in high glucose-induced injury of human podocyte cells (HPCs). Using RNA-seq analysis, we identified that high glucose broadly affected multiple signaling pathways related to cell growth, death, and signal transduction. Notably, DJ-1 expression was downregulated under high glucose conditions. Overexpression of DJ-1 significantly attenuated high glucose-induced HPC apoptosis. Mechanistically, DJ-1 promoted the phosphorylation of ERK1/2 and facilitated the nuclear translocation of p-ERK1/2. This activated the ERK1/2 pathway and upregulated the expression of NF-κB p65 and AP-1, thereby suppressing HPC apoptosis under high glucose conditions. In summary, our findings reveal that DJ-1 protects against high glucose-induced HPC injury by activating the ERK1/2 pathway and enhancing NF-κB p65 and AP-1 expression, providing new insights into the molecular mechanisms of DJ-1 in diabetic nephropathy. - Source: PubMed
Publication date: 2026/04/17
Tian XiaochenLi JingHan TaoZhang LeishengLu PingLiu Yusheng - Regional brain atrophy has been observed in dementia with Lewy bodies (DLB), yet determinants of regional vulnerability remain unclear. Using imaging transcriptomics, we examined whether normative gene expression patterns relate to regional atrophy in DLB. We included 164 DLB patients (49 women) and 164 age- and sex-matched healthy controls from three European centres and the Mayo Clinic, USA. Volumetric atrophy was quantified from T1-weighted MRI across 58 left-hemispheric regions using w-scores. Normative expression of twelve genes implicated in alpha-synuclein, beta-amyloid, and tau pathology was extracted from the Allen Human Brain Atlas. DLB patients showed diffuse atrophy across most regions. In the full cohort, normative expression of MAPT, PINK1, and PSEN2 predicted regional atrophy after correction for spatial autocorrelation, although none survived multiple-testing correction. In the Mayo Clinic sub-cohort, expression of APP, BIN1, GBA, MAPT, PINK1, SNCA, and TMEM175 significantly predicted atrophy and survived multiple-testing correction. Random forest models did not outperform spatial null models in the full cohort, but PARK7, PINK1, and PSEN2 consistently emerged as important predictors. A significant global model was observed in the Mayo Clinic sub-cohort, driven by GBA, LRP1, and PINK1. These findings suggest that normative gene expression partially contributes to regional brain atrophy in DLB. - Source: PubMed
Publication date: 2026/04/16
Habich AnnegretBaumann Janna MSchwarz Christopher GPrzybelski Scott AInguanzo AnnaOppedal KetilBlanc FrédéricLemstra Afina WHort JakubBoeve Bradley FAarsland DagWestman EricDierks ThomasKantarci KejalJonkman Laura EFerreira Daniel - Parkinson's disease (PD) is the second most common neurodegenerative disorder. Although the etiology of idiopathic PD is unclear, recessive loss-of-function mutations in PARK7/DJ-1 cause familial early-onset PD, which mirrors key features of the idiopathic form. In this study, we ablate PARK7/DJ-1 via CRISPR-Cas9 from the human neuronal cell line, SH-SY5Y. Subsequently, RNA sequencing and the DESeq2 toolkit were utilized to identify 5468 differentially expressed genes (DEG) between PARK7/DJ-1 knockouts and control SH-SY5Y cells. Three genes from each of the top 10 upregulated and downregulated gene lists were selected and confirmed via RT-PCR. Differentially expressed gene lists were run through the WebGestalt functional enrichment analysis toolkit to identify enriched gene ontology (GO) terms. Among the top significantly enriched GO biological process terms include terms related to synaptic transmission (downrgulated DEG) and development (upregulated DEG). Differentially expressed genes were run through the STRING database to predict protein-protein interactions (PPI). A highly significant PPI enrichment was observed (p < 1.0e-16). To gain insight into what could potentially be driving the observed expression changes, we performed an iRegulon analysis within Cytoscape to identify potential upstream transcription factors. The top transcriptional factors identified for driving downregulated genes was REST, while EP300 was identified as the top candidate driving upregulated genes. Our results indicate that loss of DJ-1 in human neuronal cells leads to dysregulation of networks of connected genes and pathways that are implicated in neurodegenerative disease as well as neuronal function. - Source: PubMed
Publication date: 2026/04/15
Gock NathanKim GraceMorin TessaYoung Markus AMahal AmarKostka JuliaBeischlag Timothy VLee Frank J S - (Sm), a blue-green microalgae, is well known for its rich nutritional composition, antioxidant, and anti-inflammatory properties. In this study, we found that small extracellular vesicles (sEVs) isolated from exhibit antifibrotic activity. - Source: PubMed
Publication date: 2026/03/31
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