Human Cell最新文献

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Advanced glycation end products alter the structural integrity, increase the permeability and transform the biocompatibility of collagen within the peritoneal membrane. 晚期糖基化终产物改变了腹膜内胶原的结构完整性,增加了通透性并改变了其生物相容性。
IF 3.4 3区 生物学
Human Cell Pub Date : 2025-05-12 DOI: 10.1007/s13577-025-01229-4
Makoto Fukuda, Yusuke Chiwata, Takayuki Narita, Maki Yoshihara, Hiroyuki Morimoto, Ayako Takamori, Shota Shibuki, Rinko Hinami, Ayano Ishibashi, Akinori Nagashima, Motoaki Miyazono, Shigehisa Aoki
{"title":"Advanced glycation end products alter the structural integrity, increase the permeability and transform the biocompatibility of collagen within the peritoneal membrane.","authors":"Makoto Fukuda, Yusuke Chiwata, Takayuki Narita, Maki Yoshihara, Hiroyuki Morimoto, Ayako Takamori, Shota Shibuki, Rinko Hinami, Ayano Ishibashi, Akinori Nagashima, Motoaki Miyazono, Shigehisa Aoki","doi":"10.1007/s13577-025-01229-4","DOIUrl":"https://doi.org/10.1007/s13577-025-01229-4","url":null,"abstract":"<p><p>In patients undergoing long-term peritoneal dialysis, the peritoneal accumulation of advanced glycation end-products (AGEs) due to the Maillard reaction has long been acknowledged as problematic, although the underlying mechanisms remain insufficiently understood. Recognizing collagen as both a principal substrate for AGEs deposition and a vital cellular scaffold, we developed an innovative procedure that induces the Maillard reaction in collagen at near-physiological temperatures, enabling systematic evaluations of its structural and functional modifications. Our findings reveal that Maillard reaction-treated collagen exhibits markedly increased permeability to small- and medium-sized molecules. Furthermore, this denatured collagen diminishes the proliferative capacity of adherent mesothelial cells, implicating glycation-induced alterations in collagen in the progressive deterioration of peritoneal membrane function during extended dialysis. By illuminating previously uncharacterized morphological and functional shifts in collagen triggered by the Maillard reaction, our model provides critical insights that will enhance the safety of peritoneal dialysis and inform the development of novel therapeutic strategies.</p>","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":"38 4","pages":"99"},"PeriodicalIF":3.4,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144055964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Establishment and characterization of Cri Du Chat neuronal stem cells: a novel promising resource to study the syndrome. Cri Du Chat神经干细胞的建立和表征:研究该综合征的一个新的有前途的资源。
IF 3.4 3区 生物学
Human Cell Pub Date : 2025-05-09 DOI: 10.1007/s13577-025-01230-x
Giovanna Piovani, Rosalba Monica Ferraro, Silvia Clara Giliani
{"title":"Establishment and characterization of Cri Du Chat neuronal stem cells: a novel promising resource to study the syndrome.","authors":"Giovanna Piovani, Rosalba Monica Ferraro, Silvia Clara Giliani","doi":"10.1007/s13577-025-01230-x","DOIUrl":"https://doi.org/10.1007/s13577-025-01230-x","url":null,"abstract":"<p><p>The Cri Du Chat (CdC) Syndrome is a rare chromosome disease condition resulting from variable size deletion occurring on the short arm of one of the chromosomes 5. This disorder, which affects one in 50,000 births, is responsible for developmental retardation, the mechanism of which has remained unexplained. TERT, SEMA5 A, CTNND2, TPPP, mapped in chromosome 5 short arm, are known to be expressed in the brain, and to play a role in the development of the nervous system, oligodentrocytes and in the regulation of glutamatergic and dopaminergic synaptic transmission. It is critical to understand how their haploinsufficiency might affect the development and presentation of the disease. In the absence of an animal model and of significant accessible, human tissue, human pluripotent stem cells (iPSC) directly reprogrammed from patient somatic cells open a new area of disease modeling as they can virtually be differentiated into any cell type. Our study reports, for the first time, the generation of neuronal stem cells (NSCs) from CdC-iPSCs line and in addition, subsequent differentiation into a heterogeneous population of neurons. Gene expression of the mentioned and single copy deleted genes was also evaluated by comparing their expression level in iPSC, NSCs and neuron lines. The present research represents the first and the most innovative approach, to create an in vitro CdC neuronal model to have a new translational framework to study the pathologic processes.</p>","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":"38 4","pages":"98"},"PeriodicalIF":3.4,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12064636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening of pivotal oncogenes modulated by DNA methylation in hepatocellular carcinoma and identification of atractylenolide I as an anti-cancer drug. 肝癌DNA甲基化调控的关键癌基因筛选及白术内酯I抗癌药物的鉴定。
IF 3.4 3区 生物学
Human Cell Pub Date : 2025-05-05 DOI: 10.1007/s13577-025-01224-9
Yang Zhi, Tong Qiaoyun
{"title":"Screening of pivotal oncogenes modulated by DNA methylation in hepatocellular carcinoma and identification of atractylenolide I as an anti-cancer drug.","authors":"Yang Zhi, Tong Qiaoyun","doi":"10.1007/s13577-025-01224-9","DOIUrl":"https://doi.org/10.1007/s13577-025-01224-9","url":null,"abstract":"<p><p>This study was performed to identify crucial oncogenes modulated by DNA methylation in hepatocellular carcinoma (HCC) and look for new drugs for HCC treatment. The data of TCGA-LIHC cohort were obtained from UCSC database. Weighted gene co-expression network analysis and multiple machine learning algorithms were applied to screen the crucial prognosis-related genes in HCC. Then these genes were further screened by DNA methylation status. Ten-eleven translocation 1 (TET1) was overexpressed in HCC cell lines, and its biological functions and regulatory effects on the oncogenes were explored by qPCR, methylation-specific polymerase chain reaction, cell viability assay, Western blot, etc. Molecular docking was applied to evaluate the binding affinity between atractylenolide I (AT-I) and TET1, and the tumor-suppressive functions of AT-I were examined with both in vitro and in vivo models. In this work, 12 crucial genes related to HCC prognosis were obtained, among which six genes were with differential methylation status in HCC tissues, including AKR1B10, ALPK3, NQO1, NT5DC2, SFN, and SPP1. The expression levels of ALPK3 and NT5DC2 were positively regulated by TET1, the crucial mediator of demethylation. TET1 overexpression increased the viability and stemness of HCC cells. AT-I had good binding affinity with TET1, and repressed its activity. AT-I promoted the methylation of ALPK3 and NT5DC2 promoter regions, and reduced their expression, and repressed the growth of HCC cells. In summary, DNA methylation contributes to HCC progression, and AT-I represses the malignancy of HCC cells by inhibiting TET1-mediated abnormal DNA demethylation.</p>","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":"38 4","pages":"97"},"PeriodicalIF":3.4,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deficiency of synaptotagmin-1 aggravates pressure overload-induced cardiac hypertrophy and dysfunction via the p38 MAPK signaling pathway in mice. synaptotagmin-1缺乏可通过p38 MAPK信号通路加重小鼠压力过载诱导的心脏肥厚和功能障碍。
IF 3.4 3区 生物学
Human Cell Pub Date : 2025-04-25 DOI: 10.1007/s13577-025-01220-z
Jing Shen, Junqiu Miao, Lifei Wu, Deping Wang, Guang Li, Haixiong Wang, Jimin Cao
{"title":"Deficiency of synaptotagmin-1 aggravates pressure overload-induced cardiac hypertrophy and dysfunction via the p38 MAPK signaling pathway in mice.","authors":"Jing Shen, Junqiu Miao, Lifei Wu, Deping Wang, Guang Li, Haixiong Wang, Jimin Cao","doi":"10.1007/s13577-025-01220-z","DOIUrl":"https://doi.org/10.1007/s13577-025-01220-z","url":null,"abstract":"<p><p>Cardiac hypertrophy is a major risk factor for heart failure and sudden cardiac death, but its molecular mechanisms have not been well clarified. Synaptotagmin-1 (SYT1) is an important regulator of exocytosis and apoptosis and has been found expressed in the myocardium, while its functions in heart diseases have rarely been studied. Here, we investigated the role and mechanism of SYT1 in pressure overload-induced cardiac hypertrophy. Transverse aortic constriction (TAC) surgeries were performed to induce cardiac hypertrophy in global Syt1 knockout (Syt1<sup>+/-</sup>) mice and C57BL/6J wild-type (WT) littermates in vivo, with respective sham mice as negative controls. Cardiomyocyte hypertrophy was induced by angiotensin II (Ang II) in H9C2 cells in vitro. The results showed that SYT1 expression was significantly upregulated in WT-TAC mice and in Ang II-treated H9C2 cells. Blocking angiotensin receptor by losartan decreased SYT1 expression in Ang II-treated H9C2 cells. Syt1<sup>+/-</sup> mice showed significantly exacerbated cardiac hypertrophy, dysfunction, fibrosis, apoptosis and phosphorylation of myocardial p38 MAPK in response to TAC compared to WT mice. Knocking down SYT1 using siRNA in H9C2 cells aggravated Ang II-induced cell hypertrophy and apoptosis, and also enhanced p38 MAPK phosphorylation. Inhibition of p38 MAPK by SB203580 significantly alleviated the hypertrophy and apoptosis in Ang II-treated H9C2 cells. We conclude that deficiency of SYT1 aggravates pressure overload-induced cardiac hypertrophy via the p38 MAPK signaling pathway. The study elucidates a novel role of SYT1 in cardiac remodeling.</p>","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":"38 3","pages":"96"},"PeriodicalIF":3.4,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of human induced pluripotent stem cell lines derived from a patient carrying an intragenic deletion in the NFIA gene. 从携带NFIA基因基因内缺失的患者身上衍生的人类诱导多能干细胞系。
IF 3.4 3区 生物学
Human Cell Pub Date : 2025-04-23 DOI: 10.1007/s13577-025-01222-x
Ning Zhou, Shengnan Zhang, Chunli Wang, Bixia Zheng, Aihua Zhang, Wei Zhou
{"title":"Generation of human induced pluripotent stem cell lines derived from a patient carrying an intragenic deletion in the NFIA gene.","authors":"Ning Zhou, Shengnan Zhang, Chunli Wang, Bixia Zheng, Aihua Zhang, Wei Zhou","doi":"10.1007/s13577-025-01222-x","DOIUrl":"https://doi.org/10.1007/s13577-025-01222-x","url":null,"abstract":"<p><p>Brain malformations with or without urinary tract defects (BRMUTD) are caused by heterozygous variants in the NFIA gene. BRMUTD is a neurodevelopmental disorder characterized by hypoplasia or absence of the corpus callosum, hydrocephalus or ventriculomegaly, and developmental delay, which may or may not be accompanied by urinary tract defects. Here, we report the successful generation of induced pluripotent stem cells (hiPSCs) from a 3-year-old male BRMUTD patient using Sendai virus-based non-integrating reprogramming technology. This patient-derived cell line harbors an intragenic deletion within the NFIA gene (NC_000001.10: g.61650967_61842967del [GRCh37]), which is associated with a significant reduction in NFIA expression. This cell line maintains a normal karyotype, expresses pluripotency markers, and can differentiate into three germ layers. The established hiPSCs line will provide an in vitro model for studying pathological mechanisms and potential therapies of NFIA-related neurodevelopmental disorder.</p>","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":"38 3","pages":"95"},"PeriodicalIF":3.4,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Retraction Note: RCC2 contributes to tumor invasion and chemoresistance to cisplatin in hepatocellular carcinoma. 注:在肝细胞癌中,RCC2参与肿瘤侵袭和顺铂化疗耐药。
IF 3.4 3区 生物学
Human Cell Pub Date : 2025-04-22 DOI: 10.1007/s13577-025-01223-w
Qingmin Chen, Peiqiang Jiang, Baoxing Jia, Yahui Liu, Ze Zhang
{"title":"Retraction Note: RCC2 contributes to tumor invasion and chemoresistance to cisplatin in hepatocellular carcinoma.","authors":"Qingmin Chen, Peiqiang Jiang, Baoxing Jia, Yahui Liu, Ze Zhang","doi":"10.1007/s13577-025-01223-w","DOIUrl":"https://doi.org/10.1007/s13577-025-01223-w","url":null,"abstract":"","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":"38 3","pages":"94"},"PeriodicalIF":3.4,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Establishment and characterization of NCC-PS2-C1: a novel cell line of high-grade pleomorphic spindle cell sarcoma, most consistent with myxofibrosarcoma. NCC-PS2-C1:高级别多形性梭形细胞肉瘤的新细胞系的建立和表征,与黏液纤维肉瘤最一致。
IF 3.4 3区 生物学
Human Cell Pub Date : 2025-04-20 DOI: 10.1007/s13577-025-01217-8
Shuhei Iwata, Rei Noguchi, Julia Osaki, Yuki Adachi, Yomogi Shiota, Shuhei Osaki, Shogo Nishino, Akihiko Yoshida, Seiji Ohtori, Akira Kawai, Tadashi Kondo
{"title":"Establishment and characterization of NCC-PS2-C1: a novel cell line of high-grade pleomorphic spindle cell sarcoma, most consistent with myxofibrosarcoma.","authors":"Shuhei Iwata, Rei Noguchi, Julia Osaki, Yuki Adachi, Yomogi Shiota, Shuhei Osaki, Shogo Nishino, Akihiko Yoshida, Seiji Ohtori, Akira Kawai, Tadashi Kondo","doi":"10.1007/s13577-025-01217-8","DOIUrl":"https://doi.org/10.1007/s13577-025-01217-8","url":null,"abstract":"<p><p>Pleomorphic sarcoma (PS) is a heterogeneous group of malignant mesenchymal tumors that lack specific histological differentiation. PS is characterized by genetic instability and diversity and unique histological features such as pronounced morphologic pleomorphism. PS is one of the most common soft tissue sarcomas. Complete surgical resection remains the only curative treatment and is often combined with neoadjuvant radiotherapy. Effective systemic chemotherapy is yet to be established, and PS frequently recurs locally and metastasizes to the lungs. Patient-derived cancer cell lines are invaluable tools for basic and preclinical research for developing novel chemotherapies. Herein, we report a high-grade pleomorphic spindle cell sarcoma, most consistent with myxofibrosarcoma cell line, NCC-PS2-C1, which was derived from a primary tumor specimen. NCC-PS2-C1 cells exhibited a range of copy number alterations. This cell line demonstrated consistent proliferation, spheroid formation, and invasive capabilities in vitro. Drug screening using NCC-PS2-C1 cells revealed that cobimetinib, crenolanib, and ixazomib were effective against PS. In conclusion, we established NCC-PS2-C1 cells from primary tumors of PS. This cell line is a valuable resource for developing novel chemotherapies.</p>","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":"38 3","pages":"93"},"PeriodicalIF":3.4,"publicationDate":"2025-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hyaluronic acid-modified milk exosomes carrying ZNF516 inhibit ABCC5 and contribute to pemetrexed sensitivity in lung adenocarcinoma. 携带ZNF516的透明质酸修饰的乳外泌体抑制ABCC5并有助于肺腺癌培美曲塞的敏感性。
IF 3.4 3区 生物学
Human Cell Pub Date : 2025-04-19 DOI: 10.1007/s13577-025-01219-6
Hui Li, Yanyan Sun, Jue Wang, Zhiwu Wang, Lan Wu, Jie Lei, Ying Gao
{"title":"Hyaluronic acid-modified milk exosomes carrying ZNF516 inhibit ABCC5 and contribute to pemetrexed sensitivity in lung adenocarcinoma.","authors":"Hui Li, Yanyan Sun, Jue Wang, Zhiwu Wang, Lan Wu, Jie Lei, Ying Gao","doi":"10.1007/s13577-025-01219-6","DOIUrl":"https://doi.org/10.1007/s13577-025-01219-6","url":null,"abstract":"<p><p>Lung adenocarcinoma (LUAD) is the most common subtype of lung cancer. Milk-derived exosomes (mEXOs) have critical roles in cancer treatment. This paper explores the effects of hyaluronic acid (HA)-modified mEXOs (HA-mEXOs) in LUAD. HA-mEXOs were isolated and prepared, and PMX-resistant cells were developed. CCK-8, colony formation, Transwell, flow apoptosis, xenograft tumor assay, immunohistochemistry, and TUNEL experiments were conducted to explore the impact of mEXOs and HA-mEXOs on malignant behaviors and PMX sensitivity. The role of ZNF516 and ABCC5 on malignant behaviors and PMX sensitivity was investigated by shRNA lentiviral infection. HA modification increased the uptake and affinity of LUAD cells for mEXOs. mEXOs induced PMX-resistant LUAD cell sensitivity and inhibited their malignant behaviors. mEXOs enhanced PMX sensitivity and inhibited tumor growth. HA-mEXOs had superior effects to mEXOs. ZNF516 was lowered in LUAD-resistant cells and upregulated by mEXOs. ZNF516 bound to the ABCC5 promoter and repressed its transcriptional activation. The combined knockdown of ZNF516 reversed the antitumor benefits of mEXOs. HA-mEXOs-carrying ZNF516 enhance ZNF516 levels in LUAD/PMX cells and repress ABCC5, which in turn induces cell sensitivity to PMX and inhibits LUAD progression.</p>","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":"38 3","pages":"92"},"PeriodicalIF":3.4,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
LncRNA OLMALINC promotes osteosarcoma progression through USP1-mediated autophagy suppression. LncRNA OLMALINC通过usp1介导的自噬抑制促进骨肉瘤进展。
IF 3.4 3区 生物学
Human Cell Pub Date : 2025-04-18 DOI: 10.1007/s13577-025-01221-y
Jianping Li, Bo Yu, Zhaowen Xue, Yiping Liang, Shanchuang Chen, Tao Gui, Zitao Liu, Lei Zhang, Rui Peng
{"title":"LncRNA OLMALINC promotes osteosarcoma progression through USP1-mediated autophagy suppression.","authors":"Jianping Li, Bo Yu, Zhaowen Xue, Yiping Liang, Shanchuang Chen, Tao Gui, Zitao Liu, Lei Zhang, Rui Peng","doi":"10.1007/s13577-025-01221-y","DOIUrl":"https://doi.org/10.1007/s13577-025-01221-y","url":null,"abstract":"<p><p>Osteosarcoma (OS) remains a challenging malignancy with poor prognosis, especially in metastatic or recurrent cases. Despite progress, the molecular mechanisms driving OS, particularly the regulation of autophagy, are not fully understood. Here, through integrated analysis of single-cell and transcriptomic data, we identify a novel long non-coding RNA (lncRNA), OLMALINC, as a critical autophagy regulator in OS. OLMALINC is significantly upregulated in OS tissues, with its expression correlating to poor clinical outcomes. Functional studies show that altering OLMALINC expression impacts OS cell progression and autophagy. Mechanistically, transcriptome analysis and RNA immunoprecipitation reveal Ubiquitin-Specific Peptidase 1 (USP1) as a direct downstream target of OLMALINC. The OLMALINC-USP1 axis inhibits autophagy and activates the hypoxia-inducible factor 1 (HIF-1α) pathway, promoting OS progression. Therapeutically, combining the USP1 inhibitor ML-323 with doxorubicin demonstrated synergistic anti-tumor effects in vitro and in vivo, enhancing autophagy and apoptosis while inhibiting tumor growth. These findings uncover a novel OLMALINC-USP1-HIF-1α axis in OS progression and highlight the potential of combining autophagy modulation with chemotherapy for improved therapeutic outcomes.</p>","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":"38 3","pages":"91"},"PeriodicalIF":3.4,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical characteristics and induced pluripotent stem cells (iPSCs) disease model of Harel-Yoon syndrome caused by compound heterozygous ATAD3A variants. ATAD3A复合杂合变异体致Harel-Yoon综合征临床特征及诱导多能干细胞(iPSCs)疾病模型
IF 3.4 3区 生物学
Human Cell Pub Date : 2025-04-17 DOI: 10.1007/s13577-025-01214-x
Ziyi Jiang, Hongyu Chen, Xianghong Zhang, Xiaoling Jiang, Zhengqing Tong, Jingjing Ye, Shanshan Shi, Xucong Shi, Fengxia Li, Weiqin Shao, Qiang Shu, Lan Yu
{"title":"Clinical characteristics and induced pluripotent stem cells (iPSCs) disease model of Harel-Yoon syndrome caused by compound heterozygous ATAD3A variants.","authors":"Ziyi Jiang, Hongyu Chen, Xianghong Zhang, Xiaoling Jiang, Zhengqing Tong, Jingjing Ye, Shanshan Shi, Xucong Shi, Fengxia Li, Weiqin Shao, Qiang Shu, Lan Yu","doi":"10.1007/s13577-025-01214-x","DOIUrl":"https://doi.org/10.1007/s13577-025-01214-x","url":null,"abstract":"<p><p>ATPase family AAA-domain-containing protein 3 A (ATAD3A) is enriched on the mitochondrial membrane and is essential to the maintenance of mitochondrial structure and function. Variants of the ATAD3A gene can lead to Harel-Yoon syndrome (HAYOS), a developmental defect in neurological, cardiovascular, and other systems. This study aims to develop induced pluripotent stem cells (iPSCs) from the somatic cells of a patient (ZJUCHYLi001-A) and a negative control (ZJUCHYLi002-A) as effective tools for further investigations into the etiology of ATAD3A variant-related disease. We described and analyzed the clinical manifestations of the proband and her family members. Somatic cells from the proband and a negative control were collected and reprogrammed into iPSCs. Furthermore, we measured the ATAD3A expression levels in the iPSCs to confirm the validity of these cell lines. The proband and her elder sister were both critically ill and harbored compound heterozygous ATAD3A variants (F459S/T498 Nfs* 13). Their parents were carriers of these variants without any clinical manifestations. Both variants are located on the ATPase domain of the ATAD3A protein. Cell lines ZJUCHYLi001-A and ZJUCHYLi002-A presented typical features of pluripotent stem cells. The ATAD3A expression levels of ZJUCHYLi001-A were significantly reduced compared with ZJUCHYLi002-A. This study generated iPSCs from a patient with compound heterozygous variants of ATAD3A and a negative control as valuable tools for clarifying the molecular mechanisms underlying ATAD3A variant-related diseases.</p>","PeriodicalId":49194,"journal":{"name":"Human Cell","volume":"38 3","pages":"90"},"PeriodicalIF":3.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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