Ask about this productRelated genes to: PARK7 antibody
- 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 antibody
Related articles to: PARK7 antibody
- Alzheimer's disease (AD) is a gradual neurodegenerative disorder presenting with cognitive and non-cognitive impairment. Currently approved therapies alleviate symptoms but do not modify disease progression and may be associated with adverse effects. - Source: PubMed
Publication date: 2026/09/20
Kumar AnuragFatima NasreenKumar PramodNath RajendraSachan Amod KumarDixit Rakesh KumarPal Rishi - Parkinson's disease (PD) is a progressive neurodegenerative disorder primarily affecting dopaminergic neurons in the mesencephalon. With rising global incidence, especially in individuals over 60, PD presents with motor and non-motor symptoms. While monogenic forms account for a subset of cases, genetic heterogeneity and variable expressivity complicate diagnosis and management. This study aimed to evaluate the genetic profile of a Turkish PD cohort through clinical exome sequencing (CES), assess genotype-phenotype correlations, and identify structural rearrangements. A retrospective analysis was conducted on 137 patients diagnosed with Parkinson's disease according to the Movement Disorder Society (MDS) clinical diagnostic criteria. Targeted next-generation sequencing (NGS) analysis was performed, and identified genetic variants were strictly classified in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines and current gene-disease validity consensus. Copy number variations (CNVs) were assessed utilizing NGS read-depth algorithms. Following rigorous evaluation according to ACMG criteria and current gene-disease validity consensus, definitive disease-causing variants explaining the PD phenotype were identified in 10 patients (7.30%). This definitive diagnostic yield was driven entirely by established PD loci: GBA1 (9 patients) and a homozygous deletion in PRKN (1 patient). Beyond this definitive group, several notable variants in OMIM-associated PD genes (including LRRK2, FBXO7, PARK7, and EIF4G1) were characterized as VUS or susceptibility findings, displaying strong clinical correlations with progressive motor and complex phenotypes. A monoallelic PINK1 variant and findings in GIGYF2 and UCHL1 were strictly excluded from the causal diagnostic yield. A novel heterozygous duplication involving LRRK2 exons 6-20 was also identified; however, as it likely results in a loss of function, its pathogenicity remains uncertain under dominant gain-of-function models. Clinical exome sequencing effectively delineates the complex genetic landscape of PD in the Turkish population. While the definitive diagnostic rate is 7.30% under strict causal criteria, the characterization of prominent VUS in OMIM-associated genes and a novel LRRK2 structural variant undetected by routine MLPA highlights the evolving complexity of PD genetics and the critical need for integrating comprehensive, read-depth-based CNV analysis into standard pipelines. - Source: PubMed
Publication date: 2026/09/19
Canbek SezinGulseven M FatihMert GoncagulSenol M Guney - A persistent barrier to optimizing the utilization of deceased donor kidneys, nearly 30% of which are discarded, is the absence of objective, molecularly resolved metrics of organ quality. To address this gap, we integrated high-resolution proteoform imaging mass spectrometry (PiMS) of donor kidney biopsies with deep LC-MS-based intact proteoform profiling of recipient peripheral blood mononuclear cells (PBMCs) and standard clinical assays. This approach enables direct delineation of proteoform landscapes and reveals immunological and cell stress signatures. Across donor types, living donor (LD) kidneys were enriched for proteoforms associated with oxidative metabolism and cellular homeostasis, whereas kidneys from donation after brain death (DBD), donation after circulatory death (DCD), and discarded organs exhibited elevated abundance of stress-responsive proteoforms, including acetylated CRYAB, PARK7, S100A4, and ACTG1. Despite more pronounced early allograft dysfunction in DCD recipients, DCD tissue proteoform landscapes were globally more similar to LD than to DBD kidneys, indicating distinct injury biology not captured by clinical metrics or peptide-centric proteomics. To extend these findings beyond the graft, we performed the first paired tissue and PBMC proteoform profiling across donor types. Baseline PBMC proteoform differences were minimal; however, by day 7 post-transplant, recipients of deceased donor kidneys exhibited platelet activation, cytoskeletal stress, and inflammatory signaling. Several PBMC-derived proteoforms correlated with serum creatinine, highlighting their potential as early, objective indicators of graft adaptation. Collectively, this proof-of-concept study defines conserved injury-associated proteoforms across tissue and immune compartments and support the idea that proteoform-resolved analysis may provide a mechanistically grounded, objective framework for assessing donor kidney quality and early graft function. - Source: PubMed
Publication date: 2026/09/18
Ctortecka ClaudiaJaishankar DineshSu PeiHuang Che-FanPla IndiraHenning NathanielHollas Michael A RCallegari Michelle ATaylor Meredith ELee Yu MinDaud AmnaPinelli David FRohan VinayakCaldwell Michael AForte EleonoraSanchez AnielKelleher Neil LNadig Satish N - Along with being a significant disease in dairy cattle which incurs economic loss, mastitis also affects a wide range of parameters that involve milk yield and quality. However, the role of long non-coding RNAs (lncRNAs) in the regulation of mastitis in distinct stages of the disease in Sahiwal cows is yet to be understood. This study characterised lncRNA expression profiles and competing endogenous RNA (ceRNA) networks across healthy, subclinical, and clinical mastitis stages using RNA-Seq data from milk somatic cells. Five biologically relevant ceRNA modules were identified: Five ceRNA modules were identified that are biologically relevant: MSTRG.21615.2, is predicted to sponge bta-miR-760-3p and bta-miR-212, and involved in co-regulation of OAT and SIRT2, leading to dysregulation of urea-cycle and NAD ⁺ -metabolism; MSTRG.19791.1-bta-miR-2382-5p, which activates an extracellular antioxidant network (SOD3, CAT, GPX family, PARK7); MSTRG.1150.15-bta-miR-92b, which regulates the PTEN/PI3K-AKT signalling axis; MSTRG.19363.1-bta-miR-1296, involved in the nuclear import machinery (KPNA7, RCC1, RANBP1, NUP50), with reduced expression in clinical versus subclinical mastitis; and MSTRG.25768.1-bta-miR-2425-5p, linked to extracellular matrix remodelling via the ADAMTS. The binding prediction of all six lncRNA-miRNA pairs were favourable, with the highest predicted affinity observed for MSTRG.1150.15-bta-miR-92b (-15.4 ± 6.9 kcal/mol) and moderate but biologically relevant binding for MSTRG.19363.1-bta-miR-1296 (-7.8 ± 4.2 kcal/mol). Molecular dynamics over 50 ns revealed that the MSTRG.19363.1-bta-miR-1296 complex was the most stable, exhibiting lowest RMSD and radius of gyration values, suggesting that it may be a viable regulator of nuclear transport during the progression of mastitis. These results shed light on the underlying mechanisms of lncRNA-regulated networks associated with dairy cattle mastitis. - Source: PubMed
Publication date: 2026/09/15
Pandey BharatiTyagi Chetna - DJ-1 is a multifunctional protein that plays a pivotal role in cellular protection against oxidative stress and neurodegeneration. Mutations in the gene are associated with early-onset familial Parkinson's disease. Here we have characterized sixteen DJ-1 commercial antibodies for western blot, immunoprecipitation, and immunofluorescence using a standardized experimental protocol based on comparing read-outs in knockout cell lines and isogenic parental controls. These studies are part of a larger, collaborative initiative seeking to address antibody reproducibility issues by characterizing commercially available antibodies for human proteins and publishing the results openly as a resource for the scientific community. While the use of antibodies and protocols vary between laboratories, we encourage readers to use this report as a guide to select the most appropriate antibodies for their specific needs. - Source: PubMed
Publication date: 2026/06/23
Zha CongYaoAlende CharlesFotouhi MaryamBolívar Sara GonzálezAyoubi RihamFrancis VincentMcPherson Peter SLaflamme Carl