Ask about this productRelated genes to: Ndufv2 Blocking Peptide
- Gene:
- NDUFV2 NIH gene
- Name:
- NADH:ubiquinone oxidoreductase core subunit V2
- Previous symbol:
- -
- Synonyms:
- CI-24k
- Chromosome:
- 18p11.22
- Locus Type:
- gene with protein product
- Date approved:
- 1994-09-07
- Date modifiied:
- 2015-11-20
Related products to: Ndufv2 Blocking Peptide
Related articles to: Ndufv2 Blocking Peptide
- The mitochondrial intermediate peptidase (MIP) catalyzes the post-import removal of an N-terminal octapeptide from a subset of nuclear-encoded mitochondrial proteins. While the mechanistic role of this processing remains unclear, biallelic variants have been linked to respiratory chain dysfunction and mitochondrial disease. Patients expressing these variants most often presented with cardiomyopathy, variable neurological defects, and early mortality. Here, we report the identification and functional characterization of a homozygous variant in a patient presenting with a comparatively milder clinical phenotype involving global developmental delay, infantile epileptic spasms syndrome, and hypotonia. Analyses of patient-derived fibroblasts revealed reduced MIP abundance and impaired processing of established MIP substrates MRPL12, NDUFV2, and ATP5F1. Expression of wild-type restored these defects, confirming the pathogenic nature of the variant. Thus, our findings expand the genetic and phenotypic spectrum of -linked disease. - Source: PubMed
Publication date: 2026/06/24
Ruzzenente BenedettaBecker Pierre-HadrienAfram ElissaGaignard PaulineRötig AgnesNyaga Denis MSharpe CynthiaSadleir Lynette GRyder BryonyMetodiev Metodi D - Gastric cancer (GC) is the fifth leading cause of cancer-related mortality worldwide. Treatment options for advanced GC remain limited, owing to the frequent emergence of drug resistance. This highlights an urgent clinical need for novel therapeutic targets. Abnormal energy metabolism is a hallmark feature of cancer. MYC_V1-driven metabolic reprogramming plays a pivotal role in tumor progression. However, the specific mechanisms by which MYC_V1-related genes regulate energy metabolism in GC remains poorly understood. We employed single-sample gene set enrichment analysis (ssGSEA) to evaluate multiple tumor hallmarks in GC. A prognostic risk model was constructed based on MYC_V1-related genes, with the risk score (RS) used to stratify patients into distinct risk groups. A nomogram was developed and validated using calibration curves. Through the systematic molecular docking screening of 8327 compounds, potential therapeutic agents were identified. Functional experiments, including the CCK-8 assay, wound-healing assay and ATP production assay, were conducted to validate the role of in GC progression. This study identified MYC_V1 as the primary risk factor affecting the overall survival (OS) in GC patients ( = 0.038). A prognostic risk model was successfully constructed based on eight MYC_V1-related genes (, , , , , , , and ). The RS was confirmed as an independent prognostic factor. The prognostic risk model accurately predicted patient 1-, 3-, and 5-year OS in GC patients. Tumor microenvironment analysis revealed significant differences in immune cell infiltration patterns between high-risk and low-risk groups. High-throughput drug screening and molecular docking identified camptothecin (CPT) and vinblastine as showing strong therapeutic potential for high-risk patients. Experimental validation demonstrated that was significantly overexpressed in GC tissues, and its knockdown markedly suppressed the proliferation, migration capacity, and intracellular ATP production in GC cells, confirming the critical role of in GC progression. These findings establish as a potential therapeutic target in GC. - Source: PubMed
Publication date: 2026/05/28
Xu DuoPeng LingyiHe JingWang XueXia Jiaqi - While schizophrenia (SZ) etiology remains unclear, accumulating evidence implicates mitochondrial dysfunction, particularly complex-I of the respiratory chain and its essential free-electron scavenger subunit, NDUFV2, as a contributor to neuronal and behavioral impairments observed in SZ. Our recent studies suggest a potential role for the NDUFV2 pseudogene (NDUFV2P1) in NDUFV2 deficits. Here, we describe a mechanism by which NDUFV2P1 negatively controls NDUFV2 mRNA transport and its protein levels in SZ-derived lymphocyte cell lines (SZ-LCLs). We found increased NDUFV2P1 transcript levels in SZ frontal cortex postmortem specimens (SZ-FCX) and across all studied SZ-LCLs subcellular fractions. However, NDUFV2 levels were reduced in SZ-FCX and in all cell compartments, except for the nucleus, as compared to healthy subjects-derived LCLs (CTL-LCLs), suggesting its impaired nuclear export. Concomitantly, we observed increased NDUFV2P1, yet decreased NDUFV2 mRNA binding to NXF1, a key player in nuclear mRNA export. Overexpression of NDUFV2P1 in CTL-LCLs mimicked the SZ-state, reducing NDUFV2 levels and its binding to NXF1. The interactome of both mRNAs revealed an opposite binding profile for most RNA-binding proteins (RBPs) in SZ-LCLs compared to CTL-LCLs. Pathway enrichment analysis of the differentially bound RBPs to both transcripts revealed additional potential interference sites for NDUFV2 and NDUFV2P1, including ribosomal-, spliceosome-, and RNA transport-related RBPs. This study uncovers a new mechanism in which NDUFV2P1 interferes with RBPs involved in regulating NDUFV2 transport from the nucleus to mitochondrial-bound ribosomes. While further validation is necessary to substantiate this mechanism, the findings highlight NDUFV2P1 potential as a means for regulating mitochondrial function and consequently energy metabolism in SZ. - Source: PubMed
Publication date: 2026/06/08
Karry RachelBen-Shachar Dorit - Perturbations of genes with functional importance in T cells could be used to change the distribution of CD8 T cell states to enhance anti-tumor functions for cancer immunotherapies. We launched a world-wide computational challenge to predict the effects of gene perturbations and to devise objective functions for prioritizing gene perturbations that lead to desired T-cell state distributions. We supported the challenge by generating a single-cell Perturb-seq dataset profiling the effect of knocking out 73 individual expert-defined genes in T cells transferred into a mouse melanoma model. We compared the top algorithms developed by participants, and found that performance was primarily determined by the prior data used for gene feature representation, with perturbational data derived features, proving most effective. Experimental validation of the top 61 genes nominated by the algorithms revealed that perturbation of and reached the defined objective and biased T cell differentiation toward desired states. - Source: PubMed
Publication date: 2026/05/22
Zhang JiaqiSchwartz Marc AMutaher MohammedOlajide OluwatomisinPritykin YuriAshenberg OrrHacohen NirUhler Caroline - Aging is associated with chronic low-grade inflammation in the hypothalamus, hyperactivation of the hypothalamic-pituitary-adrenal (HPA) axis, and disruption of circadian rhythms of glucocorticoid secretion. Using the immunoblotting method, we found that a course of ethylmethylhydroxypyridine succinate (100 mg/kg, daily intraperitoneal injections for 14 days) reduced the level of inflammatory cytokines (IL-1β, TNFα) in the hypothalamus of aged (18-month-old) rats and upregulated the expression of anti-inflammatory cytokines (TGF-β1 and IL-10), growth factors (VEGF and BDNF), markers of mitochondriogenesis (PGC-1α, NDUFV2, SDHA, cyt c1, and COX2) and synaptogenesis (SYP), succinate receptor SUCNR1, and insulin receptor INSRβ. These molecular changes were associated with reduced circulating corticosterone levels, as determined by ELISA. Our findings demonstrate the normalizing effect of succinate/SUCNR1 signaling on the circadian activity of the HPA axis during aging. - Source: PubMed
Publication date: 2026/06/02
Kirova Y ITerekhina O L