Biochimica et biophysica acta. Molecular basis of disease最新文献

{"title":"Expression of Concern: \"Direct antioxidant and protective effect of estradiol on isolated mitochondria\" [Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2010, Volume 1802, Issue 1, Pages 1-7].","authors":"","doi":"10.1016/j.bbadis.2026.168323","DOIUrl":"https://doi.org/10.1016/j.bbadis.2026.168323","url":null,"abstract":"","PeriodicalId":93896,"journal":{"name":"Biochimica et biophysica acta. Molecular basis of disease","volume":"1872 8","pages":"168323"},"PeriodicalIF":0.0,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148762861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to \"Negative feedback circuitry between MIR143HG and RBM24 in Hirschsprung disease\" [Biochim. Biophys. Acta (BBA) - Mol. Basis Dis. 1862(2016) 2127-2136].","authors":"Chunxia Du, Ziyang Shen, Rujin Zang, Hua Xie, Hongxing Li, Pingfa Chen, Bo Hang, Xiaoqun Xu, Weibing Tang, Yankai Xia","doi":"10.1016/j.bbadis.2026.168503","DOIUrl":"https://doi.org/10.1016/j.bbadis.2026.168503","url":null,"abstract":"","PeriodicalId":93896,"journal":{"name":"Biochimica et biophysica acta. Molecular basis of disease","volume":" ","pages":"168503"},"PeriodicalIF":0.0,"publicationDate":"2026-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149229555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-omics analysis reveals osteocyte loss as a potential trigger for liver lipid metabolic disorder.","authors":"Yuchen Tian, Siyuan Zhu, Chenyi Jiang, Fang Ye, Senyao Zhang, Bingqi Wang, Yiyang Ma, Yidan Pang, Changqing Zhang, Junjie Gao, Peng Liao, Peng Ding, Zhiwei Li","doi":"10.1016/j.bbadis.2026.168472","DOIUrl":"https://doi.org/10.1016/j.bbadis.2026.168472","url":null,"abstract":"<p><strong>Background: </strong>Bone regulates whole-body homeostasis via secretory proteins, and clinical observations have suggested potential links between certain skeletal pathologies and liver abnormalities under specific clinical contexts.</p><p><strong>Results: </strong>This study established a postnatal-specific osteocyte knockout mouse model (Dmp1^cre DTR^fl/fl). Livers were collected for Single-cell RNA sequencing (scRNA-seq), bulk transcriptomic analysis, and metabolomic analysis to reveal the impact of osteocytes ablation on liver metabolism. Multi-omics analysis revealed alterations in lipid metabolism, with upregulation of Cyp4a10 related to oxidative stress and lipid peroxidation, and downregulation of Scd1 involved in fatty acid biosynthesis. scRNA-seq identified changes in gene expression patterns in hepatocytes, endothelial cells, and Kupffer cells, with key transcription factors (Yy1 in hepatocytes and Etv5 in endothelial cells) associated with steatosis. Altered cellular communication networks, particularly the Grn-sort1 and Angptl4-Sdc axes, potentially reshaped liver metabolism and facilitated steatosis in Dmp1^cre DTR^fl/fl mice. Histological analysis confirmed the development of hepatic steatosis in Dmp1^cre DTR^fl/fl mice.</p><p><strong>Conclusions: </strong>Loss of osteocytes has potential role in liver lipid metabolic disturbances and fat accumulation, mediated through the modulation of lipid and inflammatory gene expression and alterations in intra-cellular communication within the liver. These findings enhance our understanding of how bone disease can initiate systemic metabolic disorders and provide support for the concept of the bone-liver axis.</p>","PeriodicalId":93896,"journal":{"name":"Biochimica et biophysica acta. Molecular basis of disease","volume":"1873 2","pages":"168472"},"PeriodicalIF":0.0,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149229503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Purine and citrate metabolism in urolithiasis and bladder cancer: An integrated genetic, gene-expression, and targeted metabolite analysis.","authors":"Paulina Wigner-Jeziorska, Radosław Grębowski, Paweł Tokarz, Damian Plażuk, Janusz Szemraj","doi":"10.1016/j.bbadis.2026.168500","DOIUrl":"https://doi.org/10.1016/j.bbadis.2026.168500","url":null,"abstract":"<p><strong>Background: </strong>Metabolic reprogramming is a hallmark of bladder cancer (BC), but the contribution of inherited variation in purine and citrate metabolism remains incompletely understood. Because urolithiasis shares selected metabolic and epidemiological features with BC, we compared both disorders to identify shared and disease-specific molecular patterns.</p><p><strong>Methods: </strong>We analysed polymorphisms in ACLY, XDH, PNP, HPRT1, and GART together with targeted gene expression in peripheral blood-derived RNA and urinary citrate, hypoxanthine, and glycine measured by ¹H NMR in a Polish case-control cohort. Genetic associations were assessed using multivariable models adjusted for age, sex, smoking, and BMI, with BH-FDR correction. Genotype-expression, genotype-metabolite, and expression-metabolite relationships were evaluated, and peripheral findings were compared with GSE13507 and TCGA-BLCA bladder-tissue data.</p><p><strong>Results: </strong>ACLY rs2304497 was associated with both diseases, whereas PNP rs1713420 showed a BC-specific association after multivariable adjustment and BH-FDR correction. XDH rs2295475 associations did not remain significant after multiple-testing correction, and formal interaction analyses provided no BH-FDR-significant evidence of effect modification. Peripheral ACLY and GART transcript abundance was lower in both disease groups, while PNP was additionally lower in urolithiasis. Urinary citrate and hypoxanthine were reduced only in urolithiasis. No cross-layer associations remained significant after adjustment and BH-FDR correction. In external bladder tissue, GART was increased in both datasets, while ACLY and HPRT1 were increased in paired TCGA-BLCA tumours.</p><p><strong>Conclusions: </strong>The findings indicate shared and disease-specific molecular patterns but do not support a simple linear relationship between inherited variation, peripheral transcript abundance, and urinary metabolites. Direct functional and tissue-specific validation is required.</p>","PeriodicalId":93896,"journal":{"name":"Biochimica et biophysica acta. Molecular basis of disease","volume":" ","pages":"168500"},"PeriodicalIF":0.0,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149186723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidermal growth factor receptor inhibition alleviates cardiac ischemia/reperfusion injury through preventing mitochondrial dysfunction and ferroptosis via Rho Family GTPase 3/5' AMP-activated protein kinase axis.","authors":"Tie Hu, Xiu-Qi Wang, Chen-Chao Zou, Fa-Jia Hu, Ze-Yu Zhang, Ya-Mei Qiao, Lan-Xiang Liu, Ji-Chun Liu, Huang Huang, Song-Qing Lai","doi":"10.1016/j.bbadis.2026.168501","DOIUrl":"https://doi.org/10.1016/j.bbadis.2026.168501","url":null,"abstract":"<p><p>Previous studies have found that the underlying mechanisms of myocardial ischemia/reperfusion injury (MIRI) are complex and involve various regulated cell death including ferroptosis. The focus of this study was to elucidate the exact mechanism of MIRI and the role of the Epidermal growth factor receptor (EGFR)/Rho family GTPase 3 (RND3)/5' AMP-activated protein kinase (AMPK) pathway in MIRI-induced ferroptosis and mitochondrial dysfunction. The in vivo and in vitro I/R injury models were performed. Our results indicated that EGFR inhibition could effectively attenuate MIRI through inhibiting ferroptosis, as showed by elevated cell viability, increased LDH activity and apoptosis, prevented iron overload and abnormal lipid metabolism, maintained cardiac and mitochondrial function, reduced infarct size, decreased reactive oxygen species (ROS) and TUNEL-positive cells. Importantly, EGFR inhibition could upregulated the protein level of RND3, which could directly interact with AMPK and cause the phosphorylation and activation of it, then attenuating ferroptosis and mitochondrial dysfunction induced by MIRI. Finally, the effects of EGFR inhibition were abolished after pretreatment with pAd/RND3-shRNA or Compound C (an AMPK inhibitor). According to these findings, we conclude that the EGFR/RND3/AMPK axis plays a key role in the pathological process of MIRI and that EGFR inhibition could attenuate ferroptosis and mitochondrial dysfunction triggered by MIRI via activating the RND3/AMPK pathway.</p>","PeriodicalId":93896,"journal":{"name":"Biochimica et biophysica acta. Molecular basis of disease","volume":" ","pages":"168501"},"PeriodicalIF":0.0,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149186794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nav1.3 inhibition confers neuroprotection in traumatic brain injury by attenuating neuroinflammation and neuronal cell death via NCOA4-associated ferritin turnover.","authors":"Hua-Fu Zhao, Zi-Wei Liu, Xin-Meng Li, Di Zhang, Wei-Yu Liu, Zhi-Yi Liao, Gao-Jian Su, Zheng Liu, Xian-Jian Huang","doi":"10.1016/j.bbadis.2026.168498","DOIUrl":"https://doi.org/10.1016/j.bbadis.2026.168498","url":null,"abstract":"<p><p>Our previous investigations using antisense-mediated knockdown supported a pathogenic role for the voltage-gated sodium channel isoform Nav1.3 in traumatic brain injury (TBI), yet its downstream mechanisms remain incompletely defined. Here, we observed concurrent elevation of Nav1.3 mRNA and Ca²⁺ in human brain tissues following TBI. Pharmacological inhibition of Nav1.1/Nav1.3 with ICA-121431 in a controlled cortical impact (CCI) mouse model significantly ameliorated neurological deficits, reduced cerebral edema, downregulated neuronal injury markers (Iba-1, GFAP and iNOS) and pro-inflammatory cytokine (IL-1α, IL-3, IL-6) while upregulating anti-inflammatory IL-13. Notably, ICA-121431 combined with the anti-seizure agent levetiracetam conferred no extra benefit over ICA-121431 monotherapy. In vitro, ICA-121431 protected HT-22 neurons from stretch-induced death, increased FTH1 expression, and decreased NCOA4 levels and LC3BII/I ratio. Lysosomal inhibitor Bafilomycin A1 further elevated both LC3-II/I and FTH1 in injured neurons, confirming that the stretch-induced LC3-II/I rise represents enhanced autophagic flux rather than degradation block. Importantly, combining ICA-121431 with the mitochondrial Na⁺/Ca²⁺ exchanger (mNCX) inhibitor ITH12575 yielded greater neuroprotective effects than ICA-121431 alone. Lysosomal blockade failed to induce further accumulation of FTH1 or LC3-II in this combination group, indicating marked attenuation of NCOA4-associated ferritin turnover. Consistently, NCOA4 knockdown recapitulated this protection and restored FTH1 after stretch injury, supporting NCOA4-associated neuronal cell death. Collectively, Nav-channel inhibitor ICA-121431 improved neurological outcomes of TBI mice through reducing neuroinflammation. Concurrent inhibition of Nav-channels and mNCX yielded enhanced in-vitro protection linked to attenuated NCOA4-associated ferritin turnover. These insights provided a mechanistic basis for novel TBI therapeutic strategies targeting sodium‑calcium homeostasis.</p>","PeriodicalId":93896,"journal":{"name":"Biochimica et biophysica acta. Molecular basis of disease","volume":" ","pages":"168498"},"PeriodicalIF":0.0,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149129062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"USF1 promotes growth and glycolysis in acute myeloid leukemia cells.","authors":"Nianxue Wang, Yunshuang Guan, Ruya Zhang, Can Yang, Liping Shu, Xijun Wu","doi":"10.1016/j.bbadis.2026.168497","DOIUrl":"https://doi.org/10.1016/j.bbadis.2026.168497","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) is a hematological malignancy characterized by impaired hematopoiesis and aggressive progression, with limited treatment options and poor prognosis, especially in elderly patients. Metabolic reprogramming, particularly enhanced glycolysis, is a hallmark of AML and contributes to disease progression and therapy resistance. Upstream stimulatory factor 1 (USF1) regulates metabolism, the cell cycle, and oncogenesis in solid tumors, whereas its role in AML remains unclear. Herein, we investigated the role and underlying mechanism of USF1 in regulating USP25 transcription and promoting AML progression. We found that USF1 was highly expressed in AML samples and cell lines, and its elevated expression was associated with poor prognosis. Functional assays showed that USF1 promoted AML cell growth and glycolysis while inhibiting apoptosis. Mechanistically, USF1 directly bound to the USP25 promoter, enhancing its transcription. Knockdown of USP25 reversed the tumor-promoting effects of USF1. Moreover, in vivo studies demonstrated that silencing USF1 significantly inhibited tumor growth. In conclusion, USF1 promotes AML cell growth and glycolysis through the transcriptional activation of USP25, thereby identifying the USF1-USP25 axis as a potential therapeutic target for AML.</p>","PeriodicalId":93896,"journal":{"name":"Biochimica et biophysica acta. Molecular basis of disease","volume":" ","pages":"168497"},"PeriodicalIF":0.0,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149119740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrated transcriptomic and deep learning analyses define acRG signature for prognosis and therapeutic options in osteosarcoma.","authors":"Honglei Xiao, Xiaolong Yang, Maobin Zhou, Hongze Chang, Yan Zhang, Xiaodong Liu, Feng Cai","doi":"10.1016/j.bbadis.2026.168492","DOIUrl":"10.1016/j.bbadis.2026.168492","url":null,"abstract":"<p><p>Osteosarcoma is a highly malignant bone tumor characterized by significant clinical heterogeneity and poor prognostic outcomes. In this study, we integrated single-cell RNA sequencing data to characterize the landscape of genes related to N⁴-acetylcytidine (ac4C) modification. We calculated an acRG activity score and found that activity was predominantly enriched in osteoblastic cells. Using a machine learning framework, we constructed a six-gene prognostic signature termed acRGBS. This signature served as a robust and independent predictor of overall survival across multiple independent cohorts. Further analysis revealed that high acRGBS scores were associated with an immunosuppressive tumor microenvironment and increased immune evasion potential. Among the hub genes identified, S100A13 was highlighted as a potential driver of tumor progression. Functional experiments demonstrated that S100A13 knockdown significantly inhibited cell proliferation and reduced xenograft tumor growth in vivo. Mechanistically, S100A13 physically interacts with the mitochondrial calcium uniporter (MCU) to maintain mitochondrial calcium homeostasis. Silencing S100A13 led to mitochondrial calcium overload, which exacerbated oxidative stress and induced cell apoptosis. Finally, we showed that S100A13 knockdown significantly enhanced the anti-tumor efficacy of cisplatin treatment. These findings suggest that S100A13 is a promising therapeutic target and a valuable biomarker for risk stratification in patients with osteosarcoma.</p>","PeriodicalId":93896,"journal":{"name":"Biochimica et biophysica acta. Molecular basis of disease","volume":" ","pages":"168492"},"PeriodicalIF":0.0,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149119781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to \"Endogenous metabolite bilirubin suppresses esophageal squamous cell carcinoma by activating PERK-dependent translational repression\" [BBA - Mol. Basis Dis. 1873 (2027) 168441].","authors":"Minlei Dong, Ping Li, Jun Luo, Yingqiong Zhang, Xiaoyi Pan, Hui Zhou, Nengming Lin, Yun Gao, Ningning Li, Jing Zhu, Zhongjian Chen, Huidi Jiang","doi":"10.1016/j.bbadis.2026.168474","DOIUrl":"https://doi.org/10.1016/j.bbadis.2026.168474","url":null,"abstract":"","PeriodicalId":93896,"journal":{"name":"Biochimica et biophysica acta. Molecular basis of disease","volume":" ","pages":"168474"},"PeriodicalIF":0.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149119778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to \"Frequent inactivation of MCC/CTNNBIP1 and overexpression of phospho-beta-catenin^Y654 are associated with breast carcinoma: Clinical and prognostic significance\" [Biochim. Biophys. Acta Mol. Basis Dis. 1862 (2016) 1472-1484].","authors":"Nupur Mukherjee, Hemantika Dasgupta, Rittwika Bhattacharya, Debolina Pal, Rituparna Roy, Saimul Islam, Neyaz Alam, Jaydip Biswas, Anup Roy, Susanta Roychoudhury, Chinmay Kumar Panda","doi":"10.1016/j.bbadis.2026.168465","DOIUrl":"https://doi.org/10.1016/j.bbadis.2026.168465","url":null,"abstract":"","PeriodicalId":93896,"journal":{"name":"Biochimica et biophysica acta. Molecular basis of disease","volume":" ","pages":"168465"},"PeriodicalIF":0.0,"publicationDate":"2026-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}