Ask about this productRelated genes to: ECHDC3 Blocking Peptide
- Gene:
- ECHDC3 NIH gene
- Name:
- enoyl-CoA hydratase domain containing 3
- Previous symbol:
- -
- Synonyms:
- FLJ20909
- Chromosome:
- 10p14
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-20
- Date modifiied:
- 2019-02-20
Related products to: ECHDC3 Blocking Peptide
Related articles to: ECHDC3 Blocking Peptide
- White matter hyperintensities (WMH) are a common brain MRI marker of cerebral small vessel disease and a major risk factor for stroke and dementia, yet the molecular mechanisms governing lesion formation remain incompletely understood. Here, we combined large-scale proteomic and genomic data with tissue- and single-nucleus transcriptomic validation to identify circulating proteins that influence WMH volume and its downstream clinical manifestations. Association and Mendelian Randomization analyses of WMH volume and 2,923 plasma proteins in 52,560 UK Biobank participants identified the lysosomal protease cathepsin B (CTSB) and the mitochondrial enzyme Enoyl-CoA Hydratase Domain Containing 3 (ECHDC3) as the top candidates associated with WMH volume. Single-nucleus RNA sequencing of post-mortem periventricular white matter from 8 individuals (4 with WMH lesions and 4 matched controls) revealed a marked downregulation of CTSB in WMH lesions, predominantly in astrocytes and oligodendrocytes, whereas ECHDC3 expression was unchanged between cases and controls. In the UK Biobank, higher plasma CTSB levels and a cis-pQTL polygenic score each predicted better general cognitive ability, independent of vascular risk factors, whereas ECHDC3 showed no cognitive association. Together, these multimodal analyses across different studies point to CTSB as a lesion-suppressed, cognition-enhancing factor and a plausible therapeutic target for mitigating the effects of WMH and preserving brain health. - Source: PubMed
Publication date: 2026/04/19
Rivier CyprienDiaz-Perez SebastianBories GaelHuo ShufanClocchiatti-Tuozzo Santiagode Havenon AdamDebette StephanieSheth KevinSansing LaurenFalcone Guido - Genome-wide studies in late-onset Alzheimer's disease (LOAD) have uncovered many risk loci, yet identifying the causal genes and clarifying how these genetic signals connect to molecular and cellular mechanisms relevant to AD pathogenesis remains challenging. - Source: PubMed
Publication date: 2026/03/30
Waghmare Swapnil GKrishna Meera MMaccoux Emily CFranitza Ariel LLink Brian ALezi E - Acute myeloid leukemia (AML) is characterized by high relapse and mortality rates. Our previous investigation identified enoyl-CoA hydratase domain-containing protein 3 () as being of prognostic significance in AML; however, the underlying pathways remain elusive. The intricate crosstalk among genetic abnormalities, metabolic pathways, and protein dysfunctions underpins the complexity contributing to its poor prognosis. - Source: PubMed
Publication date: 2025/08/22
Zhao YijingGuo HanfeiNiu LitingZhao Jinfang - Ischemic stroke (IS) is a major cause of disability and mortality worldwide, with mitochondrial dysfunction playing a critical role in its pathogenesis. This study aimed to identify immune-related mitochondrial biomarkers associated with IS and evaluate their diagnostic potential. IS-related gene expression datasets were obtained from the GEO database. Differentially expressed genes (DEGs) were identified from the GSE58294 dataset, followed by functional enrichment analysis, immune infiltration assessment, and weighted gene co-expression network analysis (WGCNA). Immune-related mitochondrial genes were screened using the MITOCARTA 3.0 database. Four machine learning algorithms-random forest (RF), support vector machine (SVM), generalized linear model (GLM), and extreme gradient boosting (XGB)-were applied to identify hub genes. External validation was performed using the GSE16561 dataset, and RT-qPCR confirmed key gene expression. Functional enrichment and single-cell RNA sequencing analyses explored biological pathways and cellular localization. Five key genes (, , , , and ) were identified, among which , , and showed strong diagnostic potential (AUC > 0.7). These genes were significantly enriched in apoptosis, JAK-STAT, MAPK, and VEGF signaling pathways and were closely associated with neutrophil infiltration. Single-cell analysis revealed increased immune cell populations and distinct expression patterns of key genes in the ischemic mouse brain. This study identifies novel immune-related mitochondrial biomarkers for IS, providing insights into its pathogenesis and offering potential targets for early diagnosis and therapeutic intervention. - Source: PubMed
Publication date: 2026/02/05
Li ChenchenYou RunfaMeng XianghuaLong HaowenZheng ChaoZhan Zijie - Although large-scale studies and potential pathways of genes on intramuscular fat (IMF) in livestock have been reported, research on circRNAs in yaks-a unique, low-IMF-content animal species that is native to the Qinghai-Tibetan Plateau-is still lacking. Based on previous high-throughput sequencing results on with different IMF content, a novel circRNA encoded by the gene (designated as circVPS13C) was found to exhibit significant differential expression. Here, we systematically characterized the function and mechanism of circVPS13C on IMF deposition in yaks by adopting a series of experiments. Sequencing, RNase R processing, and nucleoplasmic separation experiments confirmed the circular structure feature of circVPS13C, and it was predominantly distributed in the cytoplasm. Furthermore, these experiments demonstrated that circVPS13C was mainly distributed in the cytoplasm. The circVPS13C// axis was constructed through ceRNA network analysis and validated by dual-luciferase reporter and rescue experiments. Furthermore, the function of these three potential regulators during IMF deposition was investigated through CCK-8, BODIPY, Oil Red O staining, and qRT-PCR analyses, and results showed that both circVPS13C and miR-5606-x promoted the differentiation and inhibited the proliferation of yak intramuscular preadipocytes, while the function of was the opposite. In conclusion, circVPS13C could act as a competitive endogenous RNA (ceRNA) sponge to sequester miR-5606-x, thereby relieving the inhibitory effect of miR-5606-x on . - Source: PubMed
Publication date: 2026/01/28
Yin YanjieMa JieqiongYue BinglinZhong JinchengShi HaitaoWang Hui