Ask about this productRelated genes to: EXOSC9 antibody
- Gene:
- EXOSC9 NIH gene
- Name:
- exosome component 9
- Previous symbol:
- PMSCL1
- Synonyms:
- PM/Scl-75, Rrp45p, RRP45, p5, p6
- Chromosome:
- 4q27
- Locus Type:
- gene with protein product
- Date approved:
- 1994-09-19
- Date modifiied:
- 2014-11-19
Related products to: EXOSC9 antibody
Related articles to: EXOSC9 antibody
- Deoxynivalenol (DON, commonly known as vomitoxin) is one of the most prevalent mycotoxins contaminating feed in China, posing a serious threat to the health of piglets. Beyond intestinal damage, the liver is a key target organ for the systemic toxicity of DON, but its hepatotoxic molecular mechanisms, particularly the changes at the proteome level, remain unclear. To investigate the protein regulatory network of DON-induced liver injury in piglets, this study systematically analyzed differential expression in the liver proteome using quantitative proteomic techniques. Proteomic analysis identified 5851 proteins in total, among which 88 were differentially expressed proteins (DEPs), including 39 upregulated and 49 downregulated proteins. Bioinformatics analysis revealed that these DEPs were significantly enriched in pathways such as DNA damage repair, RNA metabolism, ribosome biogenesis, and cysteine metabolism. Suppressed expression of key proteins like Replication Factor C Subunit 4 (RFC4) and Exosome Component 9 (EXOSC9) indicated that DON exposure severely disrupted the maintenance of genomic stability and RNA processing capacity in hepatocytes. Conversely, the activation of Nucleic Acid Binding Protein 1 (NABP1) might represent a compensatory DNA protection response. Furthermore, the upregulation of Lactate Dehydrogenase B (LDHB) suggested that DON might influence epigenetic modifications by regulating lactate metabolism. This study reveals, for the first time from a proteomic perspective, a novel mechanism by which DON induces hepatotoxicity in piglets by disrupting DNA repair and RNA metabolic homeostasis, providing an important theoretical basis and data support for elucidating the toxicological effects of DON and improving feed biosafety control strategies. - Source: PubMed
Publication date: 2025/12/01
Xue XiaoshuWu PingFan ShuhaoYin ZongjunZhang Xiaodong - Scleroderma-polymyositis overlap syndrome (SSc-PM) is an uncommon autoimmune condition characterised by clinical and serological features of both systemic sclerosis and inflammatory myopathy. Ocular manifestations of this syndrome are rare and insufficiently described in the literature. We report a case of SSc-PM presenting with orbital myositis as the primary manifestation, accompanied by proximal myopathy. A middle-aged woman presented with a 3-month history of progressive finger skin tightening, painless diplopia and restricted eye movements. Ophthalmological evaluation and imaging confirmed bilateral lateral rectus myositis. Laboratory investigations revealed elevated creatine kinase, positive antinuclear antibodies and anti-Ku antibody positivity. Following the rheumatology consultation, she was treated with intravenous methylprednisolone, transitioned to tapering oral prednisolone and initiated on mycophenolate mofetil. Her diplopia resolved completely and muscle enzyme levels normalised. Over 6 months of follow-up, there was no progression of cutaneous or pulmonary disease. This case highlights orbital myositis as a rare but treatable manifestation of SSc-PM, underscoring the importance of early recognition and prompt immunosuppression in overlap syndromes. - Source: PubMed
Publication date: 2025/09/23
Ing Shan KaiLing Guo RueyLee Yih HoongKuruvilla Antony K - Head and neck squamous cell carcinoma (HNSC) is a highly aggressive malignancy with poor prognosis, necessitating the identification of novel biomarkers for improved diagnosis and treatment. The exosome complex (EXOSC) family plays a crucial role in RNA metabolism, but its significance in HNSC remains poorly understood. We performed a comprehensive multi-omics analysis integrating data from TCGA, GEO, CPTAC, and the Human Protein Atlas to investigate the expression, prognostic value, and immune relevance of EXOSC genes in HNSC. We conducted differential expression analysis, survival analysis (OS, DSS, PFI), ROC curve evaluation, and clinicopathological correlation studies. Genetic alterations were examined using cBioPortal. Gene co-expression and enrichment analyses were used to elucidate potential molecular functions, and a protein-protein interaction (PPI) network was constructed via GeneMANIA. Immune infiltration, immune checkpoint correlations, and RNA modification associations were assessed using ssGSEA, Spearman correlation, and RNA modification databases. Experimental validation was performed by qRT-PCR in HNSC and normal cell lines. All EXOSC family members were significantly upregulated in HNSC tissues and cell lines. ROC analysis demonstrated favorable diagnostic potential, particularly for EXOSC2 (AUC = 0.910). Elevated expression of EXOSC2, EXOSC3, EXOSC8, and EXOSC9 was significantly associated with poor OS, DSS, and PFI. High expression of EXOSC2, EXOSC4, EXOSC5, and EXOSC9 correlated with advanced clinical stage, lymphovascular invasion, and poor therapeutic outcomes. cBioPortal analysis revealed EXOSC4 had the highest genetic alteration frequency (8%), primarily due to amplification. Immune infiltration analysis showed EXOSC gene expression was significantly correlated with various immune cell populations and immune checkpoint molecules, especially EXOSC3, EXOSC9, and EXOSC10. Functional enrichment and PPI network analyses indicated that EXOSC family genes participate in RNA metabolism, exoribonuclease activity, and immune-related pathways. A prognostic risk model based on EXOSC co-expressed genes demonstrated strong predictive performance for patient survival. Our study reveals that EXOSC family genes are significantly dysregulated in HNSC and are associated with tumor progression, prognosis, immune microenvironment modulation, and RNA modification. These findings highlight the potential of EXOSC members as novel diagnostic and prognostic biomarkers and suggest their relevance as therapeutic targets in HNSC. - Source: PubMed
Publication date: 2025/08/19
Zhang XuezhongZhao MengmengChu TingtingWei JiashaJia Qingmei - Pontocerebellar hypoplasia is a rare neurodegenerative syndrome characterized by severe hypoplasia or atrophy of pons and cerebellum that may be associated with other brain malformations, microcephaly, optic nerve atrophy, dystonia, ataxia and neuromuscular disorders. At this time, there are 17 variants of PCH distinguished by clinical presentation and distinctive radiological and biochemical features in addition to pontine and cerebellar hypoplasia. PCH1 is defined as PCH variant associated with anterior horn degeneration in the spinal cord with muscle weakness and hypotonia, and is associated with recessive variants in genes VRK1, EXOSC3, EXOSC8, EXOSC9 and SLC25A46. Neuromuscular manifestations may clinically present as amyotrophic lateral sclerosis (ALS), motor neuropathy (HMN) or neuronopathy (non-5q spinal muscular atrophy; SMA) or sensorimotor polyneuropathy (HMSN). Physiologic functions of PCH1-associated genes include regulation of RNA metabolism, mitochondrial fission and neuronal migration. Overall, complex phenotypes associated with PCH1 gene variants ranging from PCH and related neurodevelopmental disorders combined with neuromuscular disorders to isolated neuromuscular disorders have variable outcomes with isolated neuromuscular disorders typically having later onset with better outcomes. Improved understanding of pathogenesis of pontocerebellar hypoplasia and its association with motor neuronopathies and peripheral neuropathies may provide us with valuable insights and lead to potential new therapeutic targets for neurodegenerative disorders. - Source: PubMed
Publication date: 2025/05/15
Škarica MarioAcsadi GyulaŽivković Sasha A - Ribosome biogenesis (RiboSis) is a complex process for generating ribosomes, the cellular machinery responsible for protein synthesis. Dysfunctional RiboSis can disrupt cardiac structure and function, contributing to cardiovascular diseases. This study employed a Mendelian randomization (MR) approach, integrating multi-omics data, to investigate the relationship between RiboSis-related genes and standard cardiac structure and function. - Source: PubMed
Publication date: 2025/03/05
Wei ShuxuShen RonghuaiLu XiaojiaLi XinyiHe LingbinZhang YoutiYang JiahangShu ZhouwuHuang Xianxi