{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nNUSAP1 is a microtubule‐associated protein with a central role in mitosis. It binds both DNA and spindle microtubules to stabilize spindle assembly, regulate chromosome movement, and ensure accurate segregation. Its activity is tightly modulated through post‐translational modifications – for example, phosphorylation by CdK1 and Aurora kinases alters its microtubule binding, while interactions with key regulators such as MCAK and the chromokinesin Kid help maintain proper spindle dynamics and metaphase spindle length. These mitotic functions underscore its importance in maintaining genomic stability during cell division."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its mitotic activities, NUSAP1 participates in the maintenance of genomic integrity by influencing DNA repair and centrosome duplication. For instance, it has been implicated in the BRCA1‐regulated double strand break repair pathways, suggesting that deregulation of NUSAP1 may contribute to genomic instability and tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nOverexpression of NUSAP1 is a recurrent finding in a wide spectrum of human cancers—including prostate, cervical, breast, colorectal, glioblastoma, non–small‐cell lung, ovarian, pancreatic, bladder, and hepatocellular carcinoma—and its aberrant expression is strongly associated with accelerated cell proliferation, enhanced invasion and metastasis, and chemoresistance. NUSAP1 can drive tumor progression through multiple mechanisms: it is transcriptionally upregulated by factors such as E2F1 and MEF2D; it modulates key oncogenic signaling pathways including the PI3K/AKT, Wnt/β–catenin, and STAT3 cascades; and it influences epigenetic factors such as DNMT1. 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"}, {"type": "b", "children": [{"type": "t", "text": "NuSAP regulates microtubule flux and Kif2A localization to ensure accurate chromosome congression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.202108070"}], "href": "https://doi.org/10.1083/jcb.202108070"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38117947"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38117947"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Shweta Kotian, Tapahsama Banerjee, Ainsley Lockhart, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Mitosis is a source of potential markers for screening and survival and therapeutic targets in cervical cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0055975"}], "href": "https://doi.org/10.1371/journal.pone.0055975"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23405241"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23405241"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Li Chen, Liu Yang, Feng Qiao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High Levels of Nucleolar Spindle-Associated Protein and Reduced Levels of BRCA1 Expression Predict Poor Prognosis in Triple-Negative Breast Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0140572"}], "href": "https://doi.org/10.1371/journal.pone.0140572"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26485712"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26485712"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Catherine A Gordon, Xue Gong, Durga Ganesh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NUSAP1 promotes invasion and metastasis of prostate cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.15604"}], "href": "https://doi.org/10.18632/oncotarget.15604"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28404898"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28404898"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Guoda Han, Zhijiang Wei, Haibin Cui, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Prognostic value of NUSAP1 in progression and expansion of glioblastoma multiforme."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurooncol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11060-018-2942-1"}], "href": "https://doi.org/10.1007/s11060-018-2942-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29995176"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29995176"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Xi Zhang, Yuliang Pan, Huiqun Fu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Nucleolar and Spindle Associated Protein 1 (NUSAP1) Inhibits Cell Proliferation and Enhances Susceptibility to Epirubicin In Invasive Breast Cancer Cells by Regulating Cyclin D Kinase (CDK1) and DLGAP5 Expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Med Sci Monit (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.12659/MSM.910364"}], "href": "https://doi.org/10.12659/MSM.910364"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30476929"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30476929"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Yuzu Zhao, Jiang He, Yongsen Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NUSAP1 potentiates chemoresistance in glioblastoma through its SAP domain to stabilize ATR."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Signal Transduct Target Ther (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41392-020-0137-7"}], "href": "https://doi.org/10.1038/s41392-020-0137-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32317623"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32317623"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Bo Ling, Pengya Wei, Juan Xiao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Nucleolar and spindle‑associated protein 1 promotes non‑small cell lung cancer progression and serves as an effector of myocyte enhancer factor 2D."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Rep (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/or.2020.7918"}], "href": "https://doi.org/10.3892/or.2020.7918"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33650655"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33650655"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Jian Hou, Zhenquan Lu, Xianhua Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased NUSAP1 expression is associated with lymph node metastasis and survival prognosis in bladder urothelial carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-022-11137-4"}], "href": "https://doi.org/10.1038/s41598-022-11137-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35487972"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35487972"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Rui Gou, Mingjun Zheng, Yuexin Hu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification and clinical validation of NUSAP1 as a novel prognostic biomarker in ovarian cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Cancer (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12885-022-09753-4"}], "href": "https://doi.org/10.1186/s12885-022-09753-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35739489"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35739489"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Yaotian Hu, Zhiyi Xue, Chen Qiu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Knockdown of NUSAP1 inhibits cell proliferation and invasion through downregulation of TOP2A in human glioblastoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Cycle (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/15384101.2022.2074199"}], "href": "https://doi.org/10.1080/15384101.2022.2074199"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35532155"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35532155"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Mingjun Li, Bo Yang "}, {"type": "b", "children": [{"type": "t", "text": "Prognostic Value of NUSAP1 and Its Correlation with Immune Infiltrates in Human Breast Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Crit Rev Eukaryot Gene Expr (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1615/CritRevEukaryotGeneExpr.2021040248"}], "href": "https://doi.org/10.1615/CritRevEukaryotGeneExpr.2021040248"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35695609"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35695609"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Tiantian Gao, Lei Zhao, Fan Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Evaluate the diagnostic and prognostic value of NUSAP1 in papillary thyroid carcinoma and identify the relationship with genes, proteins, and immune factors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "World J Surg Oncol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12957-022-02652-9"}], "href": "https://doi.org/10.1186/s12957-022-02652-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35710427"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35710427"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Jinying Li, Ming Tang, Junru Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NUSAP1, a novel stemness-related protein, promotes early recurrence of hepatocellular carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Sci (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cas.15585"}], "href": "https://doi.org/10.1111/cas.15585"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36106345"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36106345"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Chun-Lung Chiu, Caiyun G Li, Erik Verschueren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NUSAP1 Binds ILF2 to Modulate R-Loop Accumulation and DNA Damage in Prostate Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms24076258"}], "href": "https://doi.org/10.3390/ijms24076258"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37047232"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37047232"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Yuan Liu, Rong Tang, Qing-Cai Meng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NUSAP1 promotes pancreatic ductal adenocarcinoma progression by drives the epithelial-mesenchymal transition and reduces AMPK phosphorylation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Cancer (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12885-024-11842-5"}], "href": "https://doi.org/10.1186/s12885-024-11842-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38229038"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38229038"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Yuyang Zhang, Kate Huang, Huihua Cai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The role of nucleolar spindle-associated protein 1 in human ovarian cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biochem (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jcb.29661"}], "href": "https://doi.org/10.1002/jcb.29661"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32031285"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32031285"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Z Yu, X M Li, M Huai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[NUSAP1 promotes lung cancer progression by activating AKT/mTOR signaling pathway]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Zhong Liu Za Zhi (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3760/cma.j.cn112152-20200226-00132"}], "href": "https://doi.org/10.3760/cma.j.cn112152-20200226-00132"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32842441"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32842441"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Alisa Mo, Emuna Paz-Ebstein, Shira Yanovsky-Dagan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.14335"}], "href": "https://doi.org/10.1111/cge.14335"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37005340"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37005340"}]}]}]}