Ask about this productRelated genes to: NUDT8 antibody
- Gene:
- NUDT8 NIH gene
- Name:
- nudix hydrolase 8
- Previous symbol:
- -
- Synonyms:
- FLJ41567
- Chromosome:
- 11q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-03-29
- Date modifiied:
- 2015-11-13
Related products to: NUDT8 antibody
Related articles to: NUDT8 antibody
- The SPINK2 protein, encoded by the SPINK2 gene, plays an essential role in the normal development of spermatozoa, and its deficiency is associated with spermatogenesis disorders ranging from aspermia to azoospermia. This study aimed to identify the most deleterious variants of the SPINK2 gene and to evaluate their effects on protein structure and function through an in silico approach. A total of 8,028 variants were identified, including 72 missense variants. Using 11 bioinformatics tools, six variants (P50L, T58I, C66Y, E62A, P42S, and P45L) were predicted to have deleterious effects. Protein-protein interaction analysis using the STRING database revealed strong functional associations between SPINK2, SPINK1, and ACR, and medium-confidence associations with SPINK4, SPINK13, PMPCA, KLK4, SPINK9, SPINK6, SPACA1, and NUDT8. Local structural analysis showed that variants such as T58I and C66Y gained additional hydrophobic interactions, whereas P50L and P42S lost key interactions, potentially impairing protein stability and function. Molecular dynamics simulations using GROMACS revealed that P50L enhances protein stability, reduces amino acid flexibility, and increases the overall dimensions of the protein. T58I had a mild effect on stability, whereas E62A and C66Y decreased stability and flexibility while increasing protein size. P42S and P45L induced slight stability alterations, reduced flexibility, and enlarged the protein. Overall, these structural and dynamic changes suggest functional impairment of SPINK2. To our knowledge, this is the first study to identify six deleterious SPINK2 variants with potential roles in the disruption of spermatogenesis, providing a foundation for future functional and clinical investigations. - Source: PubMed
Publication date: 2026/01/30
Elkarhat GhitaAit Benichou SamahRedouane SalaheddineBarakat AbdelhamidSoukri AbdelazizEl Khalfi BouchraRouba Hassan - Polycystic ovary syndrome (PCOS) is a heterogeneous reproductive endocrine condition in women, with implications in fertility and long-term metabolic health. PCOS with hyperandrogen (HA-PCOS; hyperandrogenic PCOS) has been recently identified as one of the four subtypes of PCOS. Dyslipidemia is known to be associated with clinical hyperandrogenism in PCOS. Indeed, patients with HA-PCOS were found to have the highest incidence of dyslipidemia among patients with the other three subtypes of PCOS. In the present study, we identified genes involved in lipid-associated processes (namely, lipid biosynthetic process, lipid catabolic process, hyperlipidemia, hypolipidemia and lipid homeostasis) whose expression are changed in granulosa cells from HA-PCOS patients compared to those from non-PCOS women, in order to identify molecular factors contributing to the highest risk of dyslipidemia incidence observed in patients with hyperandrogenic PCOS. We found 27 lipid biology-associated genes (ACSM1, ACSM3, AGPAT4, AJUBA, ALDH1A2, CCDC3, LPL, P2RX1, PITPNM1, PRLR, PTGIS, SLC44A5, SPTSSB, ST8SIA5, IDH1, ITPKA, PPM1L, SPTLC2, ADRA2A, ASPG, IRS1, PLB1, IDH1, LCT, NUDT8, SMPDL3A and SYNE2) whose transcript levels are significantly downregulated or upregulated in granulosa cells of women with HA-PCOS compared to those in control women. The majority of these genes have not been previously studied in the context of PCOS, and are possible candidates for further research to better understand the contribution of high androgen levels to dyslipidemia in PCOS. Targeting of high androgen-induced dyslipidemia might be of high clinical importance in the treatment of women with HA-PCOS. - Source: PubMed
Publication date: 2026/01/28
Berkel Caglar - Osteoarthritis (OA) is the most common joint disease characterized by joint inflammation and cartilage deterioration. Though disrupted cholesterol metabolism has been implicated in the pathogenesis of OA, the underlying mechanisms remains unclear. Here we demonstrate that increased cholesterol in joint is a crucial activator of the cGAS-STING pathway in cartilage during OA. Subchondral osteocytes, which contact with blood vessel and cartilage, increase their uptake of cholesterol and transfer mitochondria to cartilage to trigger its inflammatory pathway. This process is mediated by increased cytosolic mitochondrial DNA (mtDNA) in chondrocytes, and is further amplified through enhanced mitochondrial transfer between chondrocytes. Mechanistically, we identify a mitochondrial subpopulation in osteocytes that enriched in Nudt8, which act as a key regulator of metabolic-inflammatory crosstalk. Nudt8 alters cholesterol metabolism by degrading coenzyme A, leading to an accumulation of cytosolic mtDNA and subsequent activation of the cGAS-STING pathway in chondrocytes. Pharmacological targeting osteocyte mitochondrial Nudt8 by supplementing pantethine ameliorate inflammation in cartilage and joint pain in OA mice, offering a potential therapeutic strategy for OA. - Source: PubMed
Publication date: 2025/11/19
Ma YiyangPang YidanLiu ChenglongTian YuchenZheng KaiwenYao MengLiu XiaofengCao RuomuZhao YiweiZheng ZhikaiJia WeitaoZhu DaoyuPeng HaoDu DajiangQu XinhuaLiu Chuan-JuYang PeiHuang YigangZhang ChangqingGao Junjie - Coronary artery disease (CAD) is the leading cause of mortality worldwide. In chronic and myocardial infarction (MI) states, aberrant levels of circulating microRNAs compromise gene expression and pathophysiology. We aimed to compare microRNA expression in chronic-CAD and acute-MI male patients in peripheral blood vasculature versus coronary arteries proximal to a culprit area. Blood from chronic-CAD, acute-MI with/out ST segment elevation (STEMI/NSTEMI, respectively), and control patients lacking previous CAD or having patent coronary arteries was collected during coronary catheterization from peripheral arteries and from proximal culprit coronary arteries aimed for the interventions. Random coronary arterial blood was collected from controls; RNA extraction, miRNA library preparation and Next Generation Sequencing followed. High concentrations of microRNA-483-5p (miR-483-5p) were noted as 'coronary arterial gradient' in culprit acute-MI versus chronic-CAD ( = 0.035) which were similar to controls versus chronic-CAD ( < 0.001). Meanwhile, peripheral miR-483-5p was downregulated in acute-MI and chronic-CAD, compared with controls (1.1 ± 2.2 vs. 2.6 ± 3.3, respectively, < 0.005). A receiver operating characteristic curve analysis for miR483-5p association with chronic CAD demonstrated an area under the curve of 0.722 ( < 0.001) with 79% sensitivity and 70% specificity. Using in silico gene analysis, we detected miR-483-5p cardiac gene targets, responsible for inflammation (), oxidative stress (, ), apoptosis (), fibrosis (, , ), angiogenesis (, ) and wound healing (). High miR-483-5p 'coronary arterial gradient' in acute-MI, unnoticed in chronic-CAD, suggests important local mechanisms for miR483-5p in CAD in response to local myocardial ischemia. MiR-483-5p may have an important role as a gene modulator for pathologic and tissue repair states, is a suggestive biomarker, and is a potential therapeutic target for acute and chronic cardiovascular disease. - Source: PubMed
Publication date: 2023/05/10
Volodko OlgaVolinsky NataliaYarkoni MeravMargalit NufarKusniec FabioSudarsky DoronElbaz-Greener GabbyCarasso ShemyAmir Offer - We recently reported the presence of nicotinamide adenine dinucleotide (NAD)-capped RNAs in mammalian cells and a role for DXO and the Nudix hydrolase Nudt12 in decapping NAD-capped RNAs (deNADding) in cells. Analysis of 5'caps has revealed that in addition to NAD, mammalian RNAs also contain other metabolite caps including flavin adenine dinucleotide (FAD) and dephosphoCoA (dpCoA). In the present study we systematically screened all mammalian Nudix proteins for their potential deNADing, FAD cap decapping (deFADding) and dpCoA cap decapping (deCoAping) activity. We demonstrate that Nudt16 is a novel deNADding enzyme in mammalian cells. Additionally, we identified seven Nudix proteins-Nudt2, Nudt7, Nudt8, Nudt12, Nudt15, Nudt16 and Nudt19, to possess deCoAping activity in vitro. Moreover, our screening revealed that both mammalian Nudt2 and Nudt16 hydrolyze FAD-capped RNAs in vitro with Nudt16 regulating levels of FAD-capped RNAs in cells. All decapping activities identified hydrolyze the metabolite cap substrate within the diphosphate linkage. Crystal structure of human Nudt16 in complex with FAD at 2.7 Å resolution provide molecular insights into the binding and metal-coordinated hydrolysis of FAD by Nudt16. In summary, our study identifies novel cellular deNADding and deFADding enzymes and establishes a foundation for the selective functionality of the Nudix decapping enzymes on non-canonical metabolite caps. - Source: PubMed
Sharma SunnyGrudzien-Nogalska EwaHamilton KeithJiao XinfuYang JunTong LiangKiledjian Megerditch