Ask about this productRelated genes to: HIBADH antibody
- Gene:
- HIBADH NIH gene
- Name:
- 3-hydroxyisobutyrate dehydrogenase
- Previous symbol:
- -
- Synonyms:
- NS5ATP1
- Chromosome:
- 7p15.2
- Locus Type:
- gene with protein product
- Date approved:
- 1999-08-05
- Date modifiied:
- 2016-10-05
Related products to: HIBADH antibody
Related articles to: HIBADH antibody
- Primary Immune Thrombocytopenia (ITP) is an autoimmune disease characterized by thrombocytopenia and bleeding tendency. Exosomes mediate abnormal crosstalk between immune cells and megakaryocytes in ITP, suggesting that exosome-related genes may serve as potential candidates for understanding disease pathogenesis. ITP transcriptome data and exosome-related genes (ERGs) were retrieved from public databases. Potential candidate genes were preliminarily identified by intersecting ITP's differentially expressed genes (DEGs) with exosome-related key module genes, followed by exploratory screening via machine learning and the construction of a preliminary predictive model. Multi-dimensional analyses (enrichment, immune infiltration [subsequently removed due to methodological concerns], drug prediction) and RT-qPCR validation were performed. Four candidate genes (GABARAPL1, SLC39A14, HIBADH, GSR) were identified through bioinformatic analysis, involved in spliceosome and other pathways (P < 0.05, |NES| > 1). GABARAPL1, SLC39A14, and HIBADH showed exploratory correlations with specific functional T-cell subsets (|cor| > 0.3, P < 0.05). Molecular docking simulations suggested potential binding feasibility between SLC39A14/nortriptyline and GSR/oxiglutatione (binding free energy < -5 kcal/mol). RT-qPCR confirmed the significant downregulation of GABARAPL1, SLC39A14, and GSR in ITP patients (P < 0.05), while HIBADH did not show statistically significant changes (P > 0.05). In this exploratory study, GABARAPL1, SLC39A14, and GSR were identified as potential candidate biomarkers with experimental support from clinical samples. HIBADH, while predicted by bioinformatic analysis, requires further investigation to determine its clinical relevance. These findings provide exploratory insights and a preliminary basis for future hypothesis-driven research on the role of exosome-related genes in ITP. - Source: PubMed
Publication date: 2026/03/20
Lou FangfangChen ZhiyueYuan ZihaoPeng JieSun JiangyuHuang PingYang Zesong - The epidemiological and molecular associations between psoriasis and chronic obstructive pulmonary disease (COPD) remain incompletely elucidated. To explore this association and shared mechanisms, this study integrated data of the National Health and Nutrition Examination Survey (NHANES) 2003–2014 ( = 17,416), assessing this association via multivariable logistic regression and subgroup analysis. Transcriptomic data of psoriasis (skin tissue) and COPD (alveolar macrophages) were retrieved from the Gene Expression Omnibus (GEO) database. Candidate biomarkers were identified via differentially expressed gene (DEG) analysis, weighted gene coexpression network analysis (WGCNA), and machine learning [Random Forest (RF) and least absolute shrinkage and selection operator (LASSO)], followed by validation of their diagnostic efficacy. In the fully weighted and adjusted model, no statistically significant association was found between psoriasis and COPD (OR = 1.25, 95% CI: 0.93–1.68, = 0.14), although trend-level associations were observed among smokers, individuals with hypertension, and those with unstable marital status. We identified 85 shared differentially expressed genes (DEGs), enriched in inflammatory pathways such as the chemokine signaling pathway, and screened three candidate genes (UCK2, P4HA1, and HIBADH). A RF diagnostic model based on these genes achieved Area Under the Curves (AUCs) of 0.935 for psoriasis and 0.962 for COPD in external validation sets. These findings suggest that the comorbidity between psoriasis and COPD may be influenced by risk factors such as smoking and hypertension, as well as shared inflammatory pathways and differentially expressed genes (DEGs) regulation. Psoriasis could serve as a potential window for early COPD screening and provide novel cross-disease therapeutic targets. - Source: PubMed
Publication date: 2026/02/07
He YuFengXiang LinMeiHe YanChengWang GuanJieJiang HuiLiLi YuZeQi XiaoYi - Silkie (SK) chickens, valued for dark meat, serve as a model to study melanin deposition in muscle. Integrated transcriptomics and metabolomics of SK vs. Arbor Acres (AA) broiler pectoralis were used to identify key molecular drivers of meat color. All birds were cage-raised under standardized temperature and light conditions with free access to feed and water. Pectoralis muscle samples were collected from 24-day-old healthy SK and AA chickens ( = 6). Transcriptome profiling identified 488 differentially expressed genes in SK chickens, with seven conserved melanogenesis genes (, , , , , , ) consistently upregulated across dark-pectoralis breeds, and melanogenesis and WNT pathways were activated. Co-expression network analysis highlighted as a key hub regulator. Metabolomics quantified 129 differentially abundant metabolites. A critical finding was the significant depletion of L-tyrosine and its derivatives in SK muscle, despite upregulated melanogenesis genes. It indicates intense metabolic flux toward pigment synthesis. Integrated analyses converged on tyrosine metabolism and redox pathways: oxidized glutathione and p-coumaric acid correlated negatively with pigment deposition, while ADP-ribose and pyridoxal correlated positively. Additionally, novel inhibitors and may modulate melanin deposition. These findings reveal a trade-off between pigment deposition and redox balance, providing molecular markers for poultry melanin-related trait improvement. - Source: PubMed
Publication date: 2026/01/14
Pan YuxianZhang LinYue XinSun ZhenZhang HuaiyongSi XuemengZheng RuiChen WenZhang MengHuang Yanqun - 3-Hydroxyisobutyric acid dehydrogenase (HIBADH) deficiency is biochemically characterized by tissue accumulation of L-3-hydroxyisobutyric acid (3HIBA). Some patients manifest neurologic symptoms and cerebral magnetic resonance imaging abnormalities whose pathophysiology is unknown. We evaluated the in vitro and in vivo effects of 3HIBA on important parameters of redox homeostasis and oxidative phosphorylation in cerebral cortex of developing rats. The in vitro studies revealed that 3HIBA significantly increased nitrite and nitrate levels and decreased reduced glutathione concentrations (GSH), glutathione peroxidase (GPx) and glutathione reductase activities (GR). 3HIBA also inhibited the activities of complex IV and moderately complex II-III of the respiratory chain, as well as ATP production. Noteworthy, the nitric oxide synthase inhibitor L-N-Nitro-L-arginine methyl ester prevented the augmented levels of nitrate and nitrite, the inhibition of GPx and complex IV activities, and the reduction of GSH and ATP levels caused by 3HIBA, supporting an important role of nitrosative stress in the disruption of redox homeostasis and oxidative phosphorylation. These biochemical markers were not altered by 3-hydroxybutyric acid, the isomer of 3HIBA, indicating a selective property of 3HIBA. Furthermore, intracerebroventricular administration of 3HIBA induced augmented cortical levels of nitrite and nitrate and decreased of GSH concentrations, GPx and complex IV activities. It also increased the mRNA expression of the antioxidant enzymes GPx1, SOD2 and GR, as well as of the oxidative stress modulator NRF2 and of the enzyme iNOS. The present data provide novel evidence of 3HIBA neurotoxicity, bringing new insights on the role of this organic acid in HIBADH deficiency neuropathology. - Source: PubMed
Publication date: 2025/12/20
Ribeiro Rafael TeixeiraPalavro RafaelZeminiaçak Ângela BeatrisZanatta ÂngelaCastro Ediandra TissotCunha Cunha Sâmela de AzevedoTavares Tailine QuevedoAmaral Alexandre UmpierrezLeipnitz GuilhianWajner Moacir - Calcium oxalate (CaOx) nephrolithiasis, as one of the most common types of kidney stones, poses a major threat to human health. This study aimed to investigate the role of 3-hydroxyisobutyrate dehydrogenase (HIBADH) in the pathogenesis of CaOx nephrolithiasis. CaOx nephrolithiasis models were established in rats via 1 % ethylene glycol and 2 % ammonium chloride induction and in HK-2 cells using calcium oxalate monohydrate (COM, 100 μg/mL). HIBADH expression was modulated through plasmid transfection and siRNA knockdown in vitro, and AAV2/9-mediated gene transfer in vivo. Multiple parameters were assessed, including cell crystal adhesion, apoptosis, cell cycle distribution, oxidative stress markers (SOD, MDA, MitoSOX fluorescence), and mitochondrial function (ATP level, mitochondrial membrane potential), using various techniques such as crystal adhesion assay, flow cytometry, western blot, qRT-PCR, and fluorescence microscopy. Kidney tissues were analyzed through H&E, Von Kossa, and PAS staining. Results demonstrated that HIBADH expression was significantly downregulated in CaOx nephrolithiasis rats and COM-treated HK-2 cells. In vitro, HIBADH overexpression reduced cell crystal adhesion and apoptosis, promoted cell cycle progression, mitigated mitochondria-involved cellular oxidative stress, and enhanced mitochondrial function in COM-induced HK-2 cells. In vivo, AAV2/9-mediated HIBADH overexpression attenuated crystal deposits and tubular injury, reduced apoptosis, and mitigated mitochondria-involved cellular oxidative stress in kidney tissues. The mitochondria-targeted antioxidant Mito-TEMPO counteracted the effects of HIBADH silencing, highlighting the role of mitochondrial function in HIBADH's protective mechanism. This study identifies HIBADH as a critical regulator in CaOx nephrolithiasis, exerting its protective effects through modulation of mitochondrial function and mitochondria-involved cellular oxidative stress, cell crystal adhesion, and apoptosis. Our findings elucidate the link between mitochondrial metabolism and kidney stone formation, positioning HIBADH as a key protective factor and a promising candidate with therapeutic potential for CaOx nephrolithiasis. - Source: PubMed
Publication date: 2025/05/05
Chen WenweiZhuang AnniLiu ChangyiHe YanfengKaixin Lu Jiang TaoZhang HuaGao RuiXue Xueyi