Ask about this productRelated genes to: NDUFS1 antibody
- Gene:
- NDUFS1 NIH gene
- Name:
- NADH:ubiquinone oxidoreductase core subunit S1
- Previous symbol:
- -
- Synonyms:
- CI-75k
- Chromosome:
- 2q33.3
- Locus Type:
- gene with protein product
- Date approved:
- 1992-04-03
- Date modifiied:
- 2016-10-05
Related products to: NDUFS1 antibody
Related articles to: NDUFS1 antibody
- Oncocytic (Hürthle cell) carcinoma of the thyroid (OCT) is characterized by widespread loss of heterozygosity (LOH), mitochondrial accumulation, and recurrent mitochondrial DNA mutations leading to impairment of complex I. Here, we establish and characterize a novel OCT cell line, UT946, which displays severe mitochondrial electron transport chain dysfunction and a Warburg metabolic phenotype. Using a series of cytoplasmic hybrids, we establish that the complex I defect in UT946 stems from a nuclear-encoded loss-of-function mutation in the complex I subunit NDUFS1. To our surprise, the mutation in NDUFS1 was inherited as a recessive germline allele that underwent LOH in the tumor to expose functional loss of complex I. A reanalysis of 91 OCT tumor genomes revealed that LOH-driven exposure of recessive germline mutations in complex I subunits was a recurrent mechanism underlying complex I inactivation in OCT. These findings unveil a previously unidentified germline-driven mechanism of complex I loss and metabolic reprogramming in cancer and provide further evidence of the selective pressure for complex I impairment in OCT. - Source: PubMed
Publication date: 2026/07/03
de la Calle Arregui CeliaFrank Anderson RMun KelvinKim JiwoongMajmudar KuntalBishop Justin ALewis CherylXie YangMcFadden David G - ObjectiveDisulfidptosis, a newly discovered mechanism of cell death, may play a significant role in cancer initiation, progression, and prognosis. However, studies on the prognostic role of Disulfidptosis-Related Genes (DRGs) across cancers remain limited. This study aims to systematically explore the prognostic value of DRGs in various cancer types by constructing a prognosis model based on DRGs and analyzing their associations with tumor biological characteristics.MethodsThis was a pan-cancer bioinformatics study combined with in vitro qRT-PCR validation. Public transcriptomic and clinical data from cancer patients were obtained from The Cancer Genome Atlas (TCGA). Samples were randomly divided into training and validation cohorts at a 1:1 ratio. In the training cohort, least absolute shrinkage and selection operator (LASSO) regression was used to identify prognosis-related DRGs, followed by multivariate Cox regression to construct a DRG-based risk score. The prognostic value of the risk score was evaluated using Cox regression, Kaplan-Meier survival analysis, and nomogram construction. Gene set activity analysis was performed to assess the associations between the DRG score and tumor-related biological processes, including angiogenesis, epithelial-mesenchymal transition (EMT), and cell cycle activity. To further validate the expression patterns of key DRGs in osteosarcoma, osteosarcoma-related transcriptomic data from TARGET and normal tissue data from GTEx were analyzed. The 16 selected DRGs were intersected with osteosarcoma-related differentially expressed genes, and 10 overlapping genes were further validated by qRT-PCR in osteosarcoma cell lines and normal osteoblasts.ResultsKey DRGs identified via LASSO regression showed significant prognostic value in pan-cancer analysis. The resulting risk model effectively stratified patients by survival outcomes and performed well in both training and validation cohorts, indicating strong clinical potential. SsGSEA revealed associations between DRG risk scores and malignant tumor features such as angiogenesis, EMT, and cell cycle dysregulation. Differential expression and GO enrichment analyses indicated that related genes were involved in metabolism, apoptosis, and immune processes. qRT-PCR validation in normal osteoblasts (hFOB) and seven osteosarcoma cell lines showed that NDUFA11 and NDUFS1 were generally downregulated, whereas ACTB, WASF2, FLNA, PRC1, ACTN4, PGD, RAC1, and FLNB were generally upregulated in most osteosarcoma cell lines compared with hFOB cells. These expression patterns were broadly consistent with the bioinformatics results and support the potential relevance of these genes in osteosarcoma progression.ConclusionBy constructing a prognostic model based on DRGs, this study reveals the significant prognostic value of DRGs across pan-cancers and further validates their association with tumor malignant characteristics. The results suggest that DRG score can serve as an effective prognostic indicator for cancer patient survival and have specific implications in osteosarcoma. In the future, DRG-based scoring systems may serve as novel biomarkers and therapeutic targets. - Source: PubMed
Publication date: 2026/06/29
Wang JinqiuHuang HuiLiu Dehuai - The metabolic switch between oxidative phosphorylation (OXPHOS) and aerobic glycolysis is a fundamental feature of tumor biology. Its dynamic regulation during pancreatic neuroendocrine tumor (pNET) cell differentiation remains poorly characterized, especially at single-cell resolution. - Source: PubMed
Publication date: 2026/06/09
Yu PingXiao Jin - Renal cell carcinoma (RCC) is the most common type of kidney cancer and significant patient population experiences relapse and metastasis, resulting in poor survival outcomes. Therefore, there is a need to identify novel biomarkers and therapeutic targets to monitor RCC progression and improve patient outcomes. MicroRNAs (miRNAs) are small non-coding RNAs that regulate post-transcriptional gene expression and have been implicated in tumor progression. - Source: PubMed
Publication date: 2026/06/09
Zarekar RupeshSingh YashasviKishore ShyamTrivedi SameerKumar UjwalSrivastava AviralRajeev T PYadav MahimaSingh Rajesh - Energy deficits underlie many neurodevelopmental, neuropsychiatric, and neurodegenerative diseases implicating mitochondria as a potential therapeutic target. Iron is necessary for neuronal energy output through its direct role in mitochondrial oxidative phosphorylation. Iron deficiency (ID) reduces mitochondrial energetic capacity in developing hippocampal neurons and causes simplified dendritic arbors and impaired learning and memory. - Source: PubMed
Publication date: 2026/06/03
Mendez Daniel CDevgun KarishmaCarlson Luke HMickelson Daniel JMonko Timothy RReeves LiviaLanier Lorene MGeorgieff Michael KBastian Thomas W