@article{%a1.%Y_238,

title = {DBR1 and the RNAopathy Landscape of Trichothiodystrophy},

author = {Veniali G and Lanzafame M},

url = {https://www.sciencedirect.com/science/article/abs/pii/S0022202X25023139?via%3Dihub},

doi = {10.1016/j.jid.2025.07.011},

year  = {2025},

date = {2025-10-10},

urldate = {2025-10-10},

journal = {Journal of investigative dermatology},

abstract = {not available - Commentary to "RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing Gene" Sikandar G. Khan, Wenelia Baghoomian,  Christiane Kuschal-Tauzon, Deborah Tamura, Maxwell P. Lee, John J. DiGiovanna, Rodrigo Cepeda-Valdes, Julio Salas-Alanis, Kenneth H. Kraemer (DOI: https://doi.org/10.1016/j.jid.2025.06.1591)},

keywords = {},

pubstate = {forthcoming},

tppubtype = {article}

}

@article{%a1.%Y_237,

title = {Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20-21 May 2025},

author = {Vatier C and Araujo-Vilar D and Akinci B and Arnould T and Beaupère C and Bismuth E and Brown RJ and Ceccarini G and Collas P and Gambineri A and Gilio D and Halperin S and Janmaat S and Lamothe S and Lattanzi G and Maffei M and MacDougald OA and Mosbah H and Nobecourt E and Oral EA and Rochford J and Santini F and Schirmer EC and von Schnurbein J and Semple R and Tews D and Wabitsch M and Vantyghem MC and Vigouroux C},

url = {https://www.sciencedirect.com/science/article/pii/S0003426625007516?via%3Dihub},

doi = {10.1016/j.ando.2025.102432},

year  = {2025},

date = {2025-10-10},

journal = {Annales de endocrinologie},

volume = {86},

issue = {5},

pages = {102432},

abstract = {Lipodystrophy syndromes are rare diseases characterized by anatomical and functional defects of adipose tissue, frequently leading to severe insulin resistance-associated metabolic complications. Subtypes of lipodystrophy syndromes differ in: their clinical presentation, with generalized or partial loss of adipose tissue; in their origin, either genetic or acquired; and in their comorbidities, forming a heterogeneous group of disorders of different severity. The European Consortium of Lipodystrophies (ECLip) was founded in 2014 as a non-profit network of health professionals, scientists and patient associations. ECLip aims to promote international collaborations to increase pathophysiological and clinical knowledge, and improve the management of lipodystrophy syndromes. ECLip now comprises 59 groups from 30 countries from Europe and beyond. The consortium developed in parallel to the increased awareness of clinical diagnosis, the growing scientific interest for these diseases at the crossroads between adipose tissue biology, whole body metabolism, genetics and immunity, and to the emergence of new pharmacological approaches. The ECLip congress, held every 18 months, aims to discuss the recent achievements and projects in the field of lipodystrophies, to consolidate ECLip activities and to promote future collaborations, highlighting clinical and fundamental aspects as well as patients' perspectives. Oral communications presented during the meeting in Paris, France, in 2025 are summarized in these minutes.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_212,

title = {Fatty acid binding protein 1 (FABP1) depletion promotes an oxidative metabolic shift in Caco-2 colorectal cancer cells},

author = {Borus DL and Zadra G and Minsky D and Costa ML and Corsico B and Storch J and Scaglia N},

url = {https://www.sciencedirect.com/science/article/pii/S1388198125000691?via%3Dihub},

doi = {10.1016/j.bbalip.2025.159661},

year  = {2025},

date = {2025-10-06},

urldate = {2025-08-11},

journal = {Biochimica et biophysica acta. Molecular and cell biology of lipids},

volume = {1870},

issue = {7},

pages = {159661},

abstract = {Lipid metabolism reprogramming is a well-established hallmark of many cancer types, including colorectal cancer (CRC). Nevertheless, a clear understanding on how fatty acid (FA) metabolism is fine-tuned during CRC development and progression is still missing. Given that CRC is the second leading cause of cancer-related death, addressing these critical aspects may provide the rationale for new therapeutic approaches and early biomarker identification. Fatty acid binding protein 1 (FABP1) is a small protein that binds FA and other lipophilic compounds, acting as a lipid transporter in the intestine. Little is currently known about the function of FABP1 in CRC. Here we show that the knockdown of FABP1 in CRC cells impairs de novo FA and cholesterol synthesis, specifically, via altering the transcriptional regulation of lipid metabolism genes. FABP1 depletion suppresses the expression of FA and cholesterol synthesis-associated genes while promoting that of FA oxidation genes and mitochondrial oxidative pathways. The latter is associated with increased oxygen consumption rate and activation of the energy sensor 5' AMP-activated kinase (AMPK). Taken together, our results show that FABP1 orchestrates the balance between FA synthesis and oxidation, most likely to prevent the cytotoxic effects of circulating unbound free fatty acids. Thus, targeting FABP1 function may represent a potential therapeutic strategy in advanced CRC.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_236,

title = {Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20-21 May 2025},

author = {Vatier C and Araujo-Vilar D and Akinci B and Arnould T and Beaupere C and Bismuth E and Brown RJ and Ceccarini G and Collas P and Gambineri A and Gilio D and Halperin S and Janmaat S and Lamothe S and Lattanzi G and Maffei M and MacDougald OA and Mosbah H and Nobecourt E and Oral EA and Rochford J and Santini F and Schirmer EC and von Schnurbein J and Semple R and Tews D and Wabitsch M and Vantyghem MC and Vigouroux C},

url = {https://www.sciencedirect.com/science/article/pii/S0003426625007516?via%3Dihub},

doi = {10.1016/j.ando.2025.102432},

year  = {2025},

date = {2025-09-29},

journal = {Annales de endocrinologie},

volume = {86},

issue = {5},

pages = {102432},

abstract = {Lipodystrophy syndromes are rare diseases characterized by anatomical and functional defects of adipose tissue, frequently leading to severe insulin resistance-associated metabolic complications. Subtypes of lipodystrophy syndromes differ in: their clinical presentation, with generalized or partial loss of adipose tissue; in their origin, either genetic or acquired; and in their comorbidities, forming a heterogeneous group of disorders of different severity. The European Consortium of Lipodystrophies (ECLip) was founded in 2014 as a non-profit network of health professionals, scientists and patient associations. ECLip aims to promote international collaborations to increase pathophysiological and clinical knowledge, and improve the management of lipodystrophy syndromes. ECLip now comprises 59 groups from 30 countries from Europe and beyond. The consortium developed in parallel to the increased awareness of clinical diagnosis, the growing scientific interest for these diseases at the crossroads between adipose tissue biology, whole body metabolism, genetics and immunity, and to the emergence of new pharmacological approaches. The ECLip congress, held every 18 months, aims to discuss the recent achievements and projects in the field of lipodystrophies, to consolidate ECLip activities and to promote future collaborations, highlighting clinical and fundamental aspects as well as patients' perspectives. Oral communications presented during the meeting in Paris, France, in 2025 are summarized in these minutes.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_233,

title = {Tracking micro- and nanoplastics in Aedes albopictus: From ingestion to metabolic disruption},

author = {Soldano S and Bonanomi M and Aramini T and Moyano A and Garbelli A and Croce AC and Weththimuni ML and Vaghi P and Puggioli A and Gomulski LM and Gaglio D and Scolari F},

doi = {10.1016/j.scitotenv.2025.180447},

year  = {2025},

date = {2025-09-29},

journal = {The Science of the total environment},

volume = {1002},

issue = {180447},

abstract = {Urban aquatic environments are increasingly contaminated with micro- and nanoplastics (MNLPs), posing risks to biodiversity and human health. These environments are ideal breeding sites for larvae of the Asian tiger mosquito Aedes albopictus, a key arbovirus vector. While plastic pollution is a global concern, physiological and metabolic consequences of MNPL-exposure in mosquitoes remain poorly understood. Combining epifluorescence and confocal imaging, mosquito life-history parameter assessment, and high-throughput metabolomic profiling, we investigated the effects of polystyrene MNPLs on Ae. albopictus. We demonstrated that ingested MNPLs cross the larval gut barrier, persist in various tissues, and are retained through development. Exposure did not significantly affect pre-imaginal survival or development time, but reduced larval body weight and caused profound metabolic alterations. Metabolomic analyses revealed downregulation of central carbon metabolism, particularly glycolysis and pentose phosphate pathway, alongside amino acid alterations linked to stress responses. Notably, MNPL-exposure also affected juvenile hormone biosynthesis, suggesting endocrine disruption. This trend was observed in both NP- and MP-exposed larvae, with a greater number of differentially regulated metabolites following MP-treatment. Interestingly, TCA cycle dysregulation was more pronounced in NP-exposed larvae, whereas perturbations in glutathione metabolism, amino sugar metabolism and nitrogen excretion were associated with MP-exposure. These findings highlight the metabolic and physiological consequences of MNPL-exposure, with potential implications for mosquito ecology, vector capacity, and environmental dissemination of plastic contaminants. Given the role of Ae. albopictus in disease transmission and its adaptation to urban habitats, further research is needed to explore the long-term ecological and epidemiological consequences of plastic pollution on mosquito populations.},

keywords = {},

pubstate = {forthcoming},

tppubtype = {article}

}

@article{%a1.%Y_232,

title = {Telomeric DNA damage response mediates neurotoxicity of Aβ42 oligomers in Alzheimer's disease},

author = {Sepe S and Rey F and Mancheno-Ferris A and Bigi A and Fani G and Damiani D and Cabrini M and Marinelli E and Aguado J and Contu L and di Lillo A and Boggio S and Tavella S and Rosso I and Gustincich S and Chiti F and {d'Adda di Fagagna F},

doi = {10.1038/s44318-025-00521-1},

year  = {2025},

date = {2025-09-29},

journal = {EMBO Journal},

abstract = {Ageing is the major risk factor for Alzheimer's disease (AD), the most common neurodegenerative disorder. DNA damage is a hallmark of ageing, particularly when occurring at telomeres, genomic regions vulnerable to oxidative damage and often challenging for the cell to repair. Here, we show that brains of 3xTg-AD mice, an established AD model characterized by amyloid-β (Aβ)-induced pathology, exhibit increased activation of DNA damage response (DDR) pathways at telomeres. Exposure of mouse primary hippocampal neurons to 42-residue Aβ (Aβ42) oligomers, a significant pathogenetic contributor to AD, triggers telomeric DDR by increasing the levels of reactive oxygen species caused by calcium imbalance. Antisense oligonucleotides targeting non-coding RNAs generated at damaged telomeres in vivo (in 3xTg-AD mice) and in vitro reduce neurotoxicity in iPSC-derived human cortical neurons and mouse primary neurons while inhibiting Aβ42-induced telomeric DDR, and restore transcriptional pathways altered by Aβ and found dysregulated in AD patients. These results unveil an unexpected role of telomeric DNA damage responses in Alzheimer's disease pathogenesis, and suggest a novel target for the development of RNA-based therapies.},

keywords = {},

pubstate = {forthcoming},

tppubtype = {article}

}

@article{%a1.%Y_231,

title = {SOD-1/2 Involvement in the Antioxidant Molecular Events Occurring upon Complex Magnetic Fields Application in an In Vitro H2O2 Oxidative Stress-Induced Endothelial Cell Model},

author = {Ricci A and Zara S and di Giacomo V and Gallorini M and Rapino M and Di Pietro N and Cipollina A and Piattelli A and Cataldi A},

url = {https://www.mdpi.com/1422-0067/26/17/8600},

doi = {10.3390/ijms26178600},

year  = {2025},

date = {2025-09-29},

journal = {International journal of molecular sciences},

volume = {26},

issue = {17},

pages = {8600},

abstract = {"Endothelial function plays a key role in tissue repair. Reactive Oxygen Species (ROS) production impairs tissue renewal and homeostasis. Complex Magnetic Fields (CMFs) have been attracting attention as a non-invasive tool to promote tissue regeneration, especially through angiogenic stimulation. The present study aims to investigate CMF effect in an in vitro model of oxidative stress-stimulated Endothelial Cells (ECs). Cells were pre-treated with H2O2 to mimic an oxidative environment, followed by the application of three CMF programs repeated in two experimental sets: two consecutive cycles (two cycles) or two cycles spaced 24 h apart (T0+T24). Flow cytometry investigation shows that both CMF applications reduce ROS production, presumably promoting SODs proteins expression. Specifically, two cycles affect mitochondrial SOD-2 expression, which may promote cellular turnover by upregulating pro-apoptotic proteins, leading to mild cell death balanced with increased cell viability. T0+T24 application promotes cytosolic SOD-1 expression, which may influence the expression and release of antioxidant molecules, as evidenced by the increased protein levels of Akt/Nrf2 and the overall antioxidant activity measured post-treatment. In conclusion, ROS-induced EC dysfunction can be reverted by CMF application: 2 cycles could be applied when cellular renewal is required (such as in pathological wounds) while T0+T24 could be useful when an antioxidant and anti-inflammatory effect is needed (e.g., in edema or muscular lesions).},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y,

title = {Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts},

author = {Cattin E and Schena E and Mattioli E and Marcuzzo S and Bonanno S and Cavalcante P and Corradi F and Benati D and Farinazzo G and Cattaneo M and De Sanctis V and Bertorelli R and Maggi L and Giannotta M and Pini A and Vattemi G and Cassandrini D and Cavallo M and Manferdini C and Lisignoli G and Fontana B and Pace I and Bruno C and Roncarati R and Fiorillo C and Ferracin M and Schirmer EC and Recchia A and Lattanzi G

},

url = {https://www.mdpi.com/2073-4409/14/17/1321},

doi = {10.3390/cells14171321},

year  = {2025},

date = {2025-09-29},

urldate = {2025-09-29},

journal = {Cells},

volume = {14},

issue = {17},

pages = {1321},

abstract = {Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in EMD, LMNA, SYNE1, SYNE2, and other related genes. The disease is characterized by joint contractures, muscle weakening and wasting, and heart conduction defects associated with dilated cardiomyopathy. Previous studies demonstrated the activation of fibrogenic molecules such as TGFbeta 2 and CTGF in preclinical models of EDMD2 and increased secretion of TGFbeta 2 in patient serum. A wide screening of patient cells suggested fibrosis, metabolism, and myogenic signaling as the most affected pathways in various EDMD forms. In this study, we show that alpha-smooth muscle actin-positive myofibroblasts are overrepresented in patient fibroblast cultures carrying EMD, LMNA, or SYNE2 mutations, and profibrotic miRNA-21 is upregulated. Upon CRISPR/Cas correction of the mutated EMD or LMNA sequence in EDMD1 or EDMD2 fibroblasts, respectively, we observe a reduced expression of fibrogenic molecules. However, in patient myoblasts, neither fibrogenic proteins nor miRNA-21 were upregulated; instead, miRNA-21-5p was downregulated along with muscle-specific miRNA-133b and miRNA-206, which have a crucial role in muscle cell homeostasis. These observations suggest that the conversion of laminopathic fibroblasts into a profibrotic phenotype is a determinant of EDMD-associated muscle fibrosis, while miRNA-206-dependent defects of laminopathic myoblasts, including altered regulation of VEGF levels, contribute to muscle cell deterioration. Notably, our study provides a proof-of-principle for the application of gene correction to EDMD1 and EDMD2 and presents EDMD1 isogenic cells that exhibit an almost complete rescue of a disease-specific miRNA signature. These cells can be used as experimental models for studying muscular laminopathies.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_230,

title = {Developing Type II F508del-CFTR correctors with a protective effect against respiratory viruses},

author = {Barbieri F and Martina MG and Pesce E and Bianchi E and Cabella N and Crespan E and Rossi S and Gemma S and Campiani G and Milite C and Pepe G and Campiglia P and Sbardella G and Maga G and Cagno V and Pedemonte N and Radi M},

url = {https://www.sciencedirect.com/science/article/pii/S0223523425008633?via%3Dihub},

doi = {10.1016/j.ejmech.2025.118098},

year  = {2025},

date = {2025-09-29},

journal = {European journal of medicinal chemistry},

volume = {300},

pages = {118098},

abstract = {Cystic fibrosis (CF) is a multifaceted disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The resulting thick mucus accumulation increases the risk of microbial infections, leading to chronic lung inflammation, progressive tissue damage, and pulmonary exacerbations (PEs). Respiratory viruses may facilitate bacterial colonization, significantly contributing to PEs. Therefore, patients with CF could benefit from a timely antiviral treatment targeting respiratory viruses (e.g., rhinoviruses). Herein, we present novel multitarget agents that combine F508del-CFTR correction with broad-spectrum antiviral activity through inhibition of the host protein PI4KB, offering a promising therapeutic strategy to prevent pulmonary exacerbations in cystic fibrosis with no risk of developing antiviral drug resistance. Among the most active candidates, the bithiazole 3b showed broad-spectrum antiviral activity in the sub- or low-micromolar range against selected viruses from the Picornaviridae, Flaviviridae, and Coronaviridae families, and a notable F508del-CFTR correction-both alone and in combination with VX809-in FRT cells. Further confirmation of CFTR correction was obtained in the CFBE41o- cell line and in primary cultures of human airway epithelial cells homozygous for F508del, the gold standard for evaluating CFTR rescue strategies, particularly in combination with VX445. In addition to its biological activity, compound 3b exhibited a favorable preclinical pharmacokinetic profile in vitro. These findings collectively highlight compound 3b as a promising multitarget candidate for cystic fibrosis, providing a solid foundation for the development of a simplified CF therapy to mitigate PE.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_222,

title = {Polygenic prediction of body mass index and obesity through the life course and across ancestries},

author = {Smit RAJ and …… and Biino G and …… and Loos RJF},

url = {https://www.nature.com/articles/s41591-025-03827-z},

doi = {10.1038/s41591-025-03827-z},

year  = {2025},

date = {2025-09-29},

urldate = {2025-08-11},

journal = {Nature medicine},

volume = {31},

issue = {9},

pages = {3151-3168},

abstract = {Polygenic scores (PGSs) for body mass index (BMI) may guide early prevention and targeted treatment of obesity. Using genetic data from up to 5.1 million people (4.6% African ancestry, 14.4% American ancestry, 8.4% East Asian ancestry, 71.1% European ancestry and 1.5% South Asian ancestry) from the GIANT consortium and 23andMe, Inc., we developed ancestry-specific and multi-ancestry PGSs. The multi-ancestry score explained 17.6% of BMI variation among UK Biobank participants of European ancestry. For other populations, this ranged from 16% in East Asian-Americans to 2.2% in rural Ugandans. In the ALSPAC study, children with higher PGSs showed accelerated BMI gain from age 2.5 years to adolescence, with earlier adiposity rebound. Adding the PGS to predictors available at birth nearly doubled explained variance for BMI from age 5 onward (for example, from 11% to 21% at age 8). Up to age 5, adding the PGS to early-life BMI improved prediction of BMI at age 18 (for example, from 22% to 35% at age 5). Higher PGSs were associated with greater adult weight gain. In intensive lifestyle intervention trials, individuals with higher PGSs lost modestly more weight in the first year (0.55 kg per s.d.) but were more likely to regain it. Overall, these data show that PGSs have the potential to improve obesity prediction, particularly when implemented early in life.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_213,

title = {Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathies},

author = {Fazio A and Sabatelli P and Faldini C and {Di Martino A} and Marvi MV and Neri I and Koufi FD and Merlini L and Manzoli L and Ratti S and Evangelisti C},

url = {https://www.sciencedirect.com/science/article/pii/S0925443925003606?via%3Dihub},

doi = {10.1016/j.bbadis.2025.168012},

year  = {2025},

date = {2025-09-29},

urldate = {2025-08-11},

journal = {Biochimica et biophysica acta. Molecular basis of disease},

volume = {1871},

issue = {8},

pages = {168012},

abstract = {Collagen VI-related myopathies (COLVI-RMs) are rare genetic disorders caused by impaired assembly and secretion of COLVI, a key extracellular matrix (ECM) protein. COLVI deficiency alters ECM architecture and biomechanics, leading to progressive muscle fiber damage and connective tissue abnormalities. While pericytes are emerging as key players in muscle regeneration due to their myogenic potential, their role in COLVI-RMs remains unclear. This study investigates pericyte involvement in COLVI-RMs, focusing on the interaction between COLVI and neural/glial antigen 2 (NG2), a proteoglycan expressed on pericyte membranes. Muscle biopsies from COLVI-RMs patients revealed abnormal pericyte distribution, reduced vessel coverage, and thickened capillary basement membranes. In vitro, healthy pericytes formed a dense COLVI network, while COLVI-RM-derived pericytes displayed a disrupted matrix and impaired cell-ECM interaction. Proximity ligation assays demonstrated a significant reduction in COLVI-NG2 binding in COLVI-RM pericytes, correlating with altered balance between proliferative and quiescent states. In turn, defects in signaling pathways related to proliferation (Akt/mTOR and Wnt/β-catenin pathways) and quiescence (N-cadherin, Notch3, FOXO3A) were identified, revealing a marked quiescent state. In vitro inhibition of the COLVI-NG2 binding in healthy pericytes reproduced these pathological features, underscoring the functional relevance of this molecular axis. Taken together, the data here reported revealed an unexpected role of NG2-COLVI binding on pericytes status. It follows that the impairment of functional binding between NG2 and COLVI could have important consequences on the pericytes myogenic potential in COLVI-RMs, and consequently on the muscle regeneration. Finally, targeting defective pericytes could provide potential therapeutic strategies for these debilitating diseases.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_229,

title = {In vitro study of cold atmospheric plasma-induced proliferation inhibition and morphological changes in head and neck carcinoma cell lines},

author = {Maravic T and Petrucci G and Giacomo VD and Mazzitelli C and Acharya TR and Kaushik NK and Choi EH and Rapino M and D'Urso D and Josic U and Caponio VCA and Micaroni M and Edoardo M and Russo LL and Muzio LL and Breschi L and Perotti V},

url = {https://www.sciencedirect.com/science/article/pii/S0300571225004518?via%3Dihub},

doi = {10.1016/j.jdent.2025.106007},

year  = {2025},

date = {2025-09-03},

journal = {Journal of dentistry},

volume = {161},

pages = {106007},

abstract = {Objectives: The use of cold atmospheric plasma (CAP) has been growing in medical field. Since limited data exist on the influence of CAP exposure on head and neck cancer (HNC) cells, we aimed to investigate in vitro its impact on proliferation and morphology of HNC (HSC2, HSC3, and FaDu) cells, as well as healthy gingival fibroblasts (hGF). Methods: A CAP gas air jet was applied directly on the HSC2, HSC3, FaDu and hGF cells for 30 and 60 s; doxorubicin has been used as positive control. Inhibition of cell proliferation at different time points (24, 48, and 72 h) was investigated through MTS [3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2-(4-sulfophenyl)-2H-tetrazolium]. Morphological alterations were observed using scanning electron microscope (SEM) and transmission electron microscope (TEM). Data were statistically analyzed (p < 0.05). Results: CAP exposure of 60 s showed the highest proliferation inhibitory effects in all investigated cancer cell lines (p < 0.001). While HSC2 had the highest proliferation inhibition at 24 h, HSC3, and FaDu exhibited a positive, time-dependent inhibitory effect (24 < 48 < 72 h) after CAP exposure. Interestingly, effects of CAP in the hGF were minimal. SEM observations revealed morphological changes in HNC cells treated with CAP at 30 and 60 s. Moreover, TEM showed stressed conditions in the survived HNC cells at 48 h after CAP exposure demonstrated by the presence of multilamellar and multi-vesicular bodies. Conclusions: CAP treatment induced proliferation inhibition, morphologic changes and stressed conditions in HNC cell lines (HSC2, HSC3, and FaDu), while demonstrating limited effects on hGF cells. Clinical significance: This work characterized early cellular responses of HSC2, HSC3, and FaDu to CAP exposure, including proliferation, and morphology, as foundational data before progressing to more clinically representative models.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_228,

title = {Human Helicase DDX5 is Hijacked by SARS-CoV‑2 Nsp13 Helicase to Enhance RNA Unwinding},

author = {Barra G and Ruggiero A and Napolitano V and Lodola C and Secchi M and Pallotta MM and Benincasa V and Leone F and Maga G and Berisio R},

url = {https://pmc.ncbi.nlm.nih.gov/articles/PMC12355267/},

doi = {10.1021/acsomega.5c04271},

year  = {2025},

date = {2025-09-03},

urldate = {2025-09-03},

journal = {ACS omega},

volume = {10},

issue = {31},

pages = {34941-34950},

abstract = {DEAD-box protein (DDX) 5 plays important roles in multiple aspects of cellular processes that require modulation of the RNA structure. Alongside the canonical role in RNA metabolism, numerous studies have demonstrated that DDX5 influences viral infections by directly interacting with viral proteins. However, the precise functional role of DDX5 during viral infection remains largely unclear. Here, we explore the previously undiscovered ability of DDX5 to interact and synergize with the Nsp13 helicase of SARS-CoV-2. We show that DDX5 exhibits a nanomolar binding affinity to Nsp13. Also, by dissecting DDX5 in its individual domains, we show that the Nsp13-DDX5 interaction is mediated by the RecA1 domain of DDX5. Importantly, we show that DDX5 and Nsp13 synergize in unwinding double-stranded RNA. Consistent with its ability to bind Nsp13, the RecA1 domain of DDX5 acts as a weak inhibitor of the synergic action of the two helicases in the RNA unwinding process. Modeling of the DDX5-Nsp13 complex provides a plausible explanation for the synergic action of the two helicases, in a mechanism that is likely instrumental in the early stage of infection, when the concentration of Nsp13 is still low.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_228,

title = {Weaponizing CRISPR/Cas9 for selective elimination of cells with an aberrant genome},

author = {Tavella S and di Lillo A and Conti A and Iannelli F and Mancheno-Ferris A and Matti V and Di Micco R and {d’Adda di Fagagna F}},

url = {https://www.sciencedirect.com/science/article/pii/S1568786425000369?via%3Dihub},

doi = {10.1016/j.dnarep.2025.103840},

year  = {2025},

date = {2025-08-11},

urldate = {2025-08-11},

journal = {DNA Repair},

volume = {149},

pages = {103840},

abstract = {The CRISPR/Cas9 technology is a powerful and versatile tool to disrupt genes' functions by introducing sequence-specific DNA double-strand breaks (DSBs). Here, we repurpose this technology to eradicate aberrant cells by specifically targeting silent and non-functional genomic sequences present only in target cells to be eliminated. Indeed, an intrinsic challenge of most current therapies against cancer and viral infections is the non-specific toxicity that they can induce in normal tissues because of their impact on important cellular mechanisms shared, to different extents, between unhealthy and healthy cells. The CRISPR/Cas9 technology has potential to overcome this limitation; however, so far effectiveness of these approaches was made dependent on the targeting and inactivation of a functional gene product. Here, we generate proof-of-principle evidence by engineering HeLa and RKO cells with a promoterless Green Fluorescent Protein (GFP) construct. The integration of this construct simulates either a genomic alteration, as in cancer cells, or a silent proviral genome. Cas9-mediated DSBs in the GFP sequence activate the DNA damage response (DDR), reduce cell viability and increase mortality. This is associated with increased cell size, multinucleation, cGAS-positive micronuclei accumulation and the activation of an inflammatory response. Pharmacological inhibition of the DNA repair factor DNA-PK enhances cell death. These results demonstrate the therapeutic potential of the CRISPR/Cas9 system in eliminating cells with an aberrant genome, regardless of the expression or the function of the target DNA sequence.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_227,

title = {Transcription: friend or foe of genome stability},

author = {Compe E and Orioli D},

url = {https://febs.onlinelibrary.wiley.com/doi/10.1002/1873-3468.15091},

doi = {10.1002/1873-3468.15091},

year  = {2025},

date = {2025-08-11},

urldate = {2025-08-11},

journal = {FEBS letters},

volume = {599},

issue = {2},

pages = {143-146},

abstract = {No abstract available},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_226,

title = {Sex Disparities in P53 Regulation and Functions: Novel Insights for Personalized Cancer Therapies},

author = {Cardano M and Buscemi G and Zannini L},

url = {https://www.mdpi.com/2073-4409/14/5/363},

doi = {10.3390/cells14050363},

year  = {2025},

date = {2025-08-11},

journal = {Cells},

volume = {14},

issue = {5},

pages = {363},

abstract = {Epidemiological studies have revealed significant sex differences in the incidence of tumors unrelated to reproductive functions, with females demonstrating a lesser risk and a better response to therapy than males. However, the reasons for these disparities are still unknown and cancer therapies are generally sex-unbiased. The tumor-suppressor protein p53 is a transcription factor that can activate the expression of multiple target genes mainly involved in the maintenance of genome stability and tumor prevention. It is encoded by TP53, which is the most-frequently mutated gene in human cancers and therefore constitutes an attractive target for therapy. Recently, evidence of sex differences has emerged in both p53 regulations and functions, possibly providing novel opportunities for personalized cancer medicine. Here, we will review and discuss current knowledge about sexual disparities in p53 pathways, their role in tumorigenesis and cancer progression, and their importance in the therapy choice process, finally highlighting the importance of considering sex contribution in both basic research and clinical practice.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_225,

title = {Effect of Spiroplasma infection on the mating behavior of Glossina fuscipes fuscipes},

author = {Fiorenza G and Piccinno R and Bruzzese DJ and Scolari F and Milanesi G and Casali C and Gomulski LM and Lescai F and Forneris F and Gasperi G and Dera KM and de Beer C and Abd-Alla AMM and Aksoy S and Malacrida AR},

url = {https://onlinelibrary.wiley.com/doi/10.1111/1744-7917.70042},

doi = {10.1111/1744-7917.70042},

year  = {2025},

date = {2025-08-11},

journal = {Insect science},

abstract = {Tsetse flies are insects of significant public health and zoonotic importance as they are the main vectors of African trypanosomes. To date, an effective vaccine is unavailable and efforts to limit the spread of the disease primarily rely on controlling the tsetse populations. The discovery of Spiroplasma (class Mollicutes) in Glossina fuscipes fuscipes (Gff) (palpalis subgroup), offers promising insights into its potential use as a biological control agent to hinder trypanosomes infection in tsetse flies. Indeed, a negative correlation between Spiroplasma and trypanosome co-infection has been observed. Using a laboratory strain of Gff, we provide fundamental biological insights into the effects of Spiroplasma infection on the mating behavior of the fly. We found a sex-biased Spiroplasma infection, with males exhibiting a higher infection rate. Mass mating experiments revealed a higher mating propensity in Spiroplasma-infected flies. Additionally, the presence of Spiroplasma influenced premating isolation, leading to nonrandom mating patterns that favored the pairing of individuals with matching infection statuses. Moreover, we present evidence of Spiroplasma vertical paternal transmission. By analyzing female reproductive tissues at 2 and 24 h postmating, we confirmed that an infected male can transfer Spiroplasma to the female via the spermatophore, which can subsequently migrate to the spermathecae. This study provides foundational insights into the role of Spiroplasma in tsetse fly mating behavior and provides supporting evidence for vertical transmission from infected males.},

keywords = {},

pubstate = {forthcoming},

tppubtype = {article}

}

@article{%a1.%Y_224,

title = {Circulating MicroRNAs in Patients with Psoriasis Treated with Anti-IL-23: A Cohort Study},

author = {Diotallevi F and Matacchione G and Campanati A and Marinelli Busilacchi E and Viola N and Pace I and Fontana B and Roncarati R and Bonafe' M and Ferracin M and Sabbatinelli J and Olivieri F},

url = {https://link.springer.com/article/10.1007/s13555-024-01331-9},

doi = {10.1007/s13555-024-01331-9},

year  = {2025},

date = {2025-08-11},

urldate = {2025-08-11},

journal = {Dermatology and therapy},

volume = {15},

issue = {1},

pages = {125-140},

abstract = {Introduction: Psoriasis is characterized by aberrant keratinocyte activity and immune cell infiltration, driven by immune-mediated pathways. MicroRNAs (miRNAs) play crucial roles in regulating these processes, offering insights into disease mechanisms and therapeutic targets. Objectives: This study aimed to investigate changes in circulating miRNAs in psoriasis patients undergoing risankizumab therapy, an anti-IL-23 monoclonal antibody, to understand its impact on disease pathogenesis and treatment response. Methods: Plasma samples from 12 psoriasis patients were collected before (T0) and after 1 year (T1) of risankizumab treatment and analyzed using small RNA sequencing. Findings were validated in a separate cohort of 23 patients using quantitative real-time PCR (qRT-PCR). T-regulatory cell (Treg) numbers and pro-inflammatory cytokine levels were also assessed. Results: Significant clinical improvement was observed in all patients after 1 year of treatment, accompanied by increased Treg counts and reduced levels of pro-inflammatory cytokines. Twenty-four miRNAs exhibited differential expression post-treatment; 9 were downregulated and 15 upregulated. Notably, miR-200a-3p showed a significant correlation with baseline Psoriasis Area Severity Index (PASI), indicating its potential as a severity marker. Risankizumab therapy also decreased peripheral blood levels of IL-23, IL-1β, and IL-8. Conclusions: This study identifies specific circulating miRNAs, including miR-200a-3p, as potential biomarkers for monitoring treatment responses in psoriasis patients. The findings underscore the therapeutic efficacy of risankizumab in modulating miRNA profiles and immune pathways associated with psoriasis pathogenesis. Overall, these results provide new insights into the mechanisms of risankizumab action and highlight miRNAs as promising candidates for personalized medicine approaches in psoriasis management.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_223,

title = {Chemical Analysis of Plasma-Activated Culture Media by Ion Chromatography},

author = {Locatelli M and Perrucci M and Balaha M and Acharya TR and Kaushik NK and Choi EH and Rapino M and Perrotti V},

url = {https://www.mdpi.com/1424-8247/18/2/199},

doi = {10.3390/ph18020199},

year  = {2025},

date = {2025-08-11},

journal = {Pharmaceuticals (Basel)},

volume = {18},

issue = {2},

pages = {199},

abstract = {Background: Currently, the procedures and methods applied in biological and medical fields for the determination of reactive oxygen and nitrogen species (RONS), primarily rely on spectrophotometric techniques, which involve the use of colorimetric reagents. While these methods are widely accepted, they exhibit significant limitations from an analytical standpoint, particularly due to potential inaccuracies, artifacts, and pronounced susceptibility to matrix effects. The purpose of this Technical Note is to demonstrate the application of ion chromatography-a robust and well-established analytical technique-for the quantification of RONS produced in cell culture media through the exposure to cold atmospheric plasma (CAP), an innovative therapeutic approach for cancer treatment, known as CAP indirect treatment. In addition, the present protocol proposes to apply the pharmacokinetics principles to the RONS generated in plasma-treated liquids (PTLs) following CAP exposure. Methods: The strategy involves elucidating the kinetic profiles of certain characteristic species by evaluating their half-life in the specific media used for cell cultures and investigating their "pharmacokinetic" (PK) profile. In this approach the drug dose is represented by the plasma power and the infusion time corresponds to the exposure time of the culture medium to CAP. Volume-dependent results were shown, focusing on nitrites and nitrates activities, justifying cellular inhibition. Results: This methodology enables the correlation of the PTL biological effects on different cell lines with the PK profiles (dose/time) obtained via ion chromatography. Conclusions: In conclusion, being a simple and green method, it could be used as an alternative to toxic reactions and analytical techniques with higher detection limits, while achieving good resolution.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_222,

title = {ANKRD2 Knockdown as a Therapeutic Strategy in Osteosarcoma: Effects on Proliferation and Drug Response in U2OS and HOS Cells},

author = {Cenni V and Bavelloni A and Capanni C and Mattioli E and Bortolozzo F and Kojic S and Orlandi G and Bertacchini J and Blalock WL},

url = {https://www.mdpi.com/1422-0067/26/4/1736},

doi = {10.3390/ijms26041736},

year  = {2025},

date = {2025-08-11},

urldate = {2025-08-11},

journal = {International journal of molecular sciences},

volume = {26},

issue = {4},

pages = {1736},

abstract = {Ankrd2, a mechanoresponsive protein primarily studied in muscle physiology, is emerging as a player in cancer progression. This study investigates the functional role of Ankrd2 in osteosarcoma cells, revealing its critical involvement in cell proliferation and response to chemotherapeutic drugs. We showed that Ankrd2 knockdown impairs the activation of PI3K/Akt and ERK1/2 pathways, reduces levels of cell cycle regulators including cyclin D1 and cyclin B, and counteracts the expression of nuclear lamin A and lamin B, disrupting nuclear morphology and DNA integrity. Strikingly, the loss of Ankrd2 enhances the sensitivity of osteosarcoma cells to doxorubicin and cisplatin, highlighting Ankrd2 potential as a therapeutic target to improve chemotherapeutic efficacy. Defining a novel mechanistic role for Ankrd2 in promoting tumor progression, we propose that Ankrd2 reduction could be exploited as an adjuvant strategy to enhance the efficacy of chemotherapy, offering new therapeutic opportunities for OS treatment.},

keywords = {},

pubstate = {forthcoming},

tppubtype = {article}

}

@article{%a1.%Y_223,

title = {FACILITY: feeding the family-the intergenerational approach to fight obesity, a cross-sectional study protocol},

author = {Vincenti and Calcaterra V and Santero S and Viroli G and Di Napoli I and Biino G and Daconto L and Cusumano M and Zuccotti G and Cena H},

url = {https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2025.1450324/full},

doi = {1450324},

year  = {2025},

date = {2025-08-11},

urldate = {2025-08-11},

journal = {Frontiers in pediatrics},

volume = {13},

pages = {1450324},

abstract = {Introduction: Paediatric obesity has been described by the World Health Organization as one of the most serious health challenges of the 21st century. Over the past four decades, the number of children and adolescents with obesity has increased between 10 and 12-fold worldwide. Methods: Childhood obesity is a complex and multifactorial outcome which can be attributed to factors such as socioeconomic status, ethnicity, lifestyle and eating habits. Beside personal-children-related factors, maternal (education, food knowledge, income) and environmental ones (food environment's features and accessibility) have been proven but their influences are still worth discussion. The cross-sectional study of the "FACILITY: feeding the family-the intergenerational approach to fight obesity" project aims at estimating children prevalence of overweight and obesity and assessing the impacts of lifestyle and of socio-economic-cultural and environmental factors on overweight and obesity. Results: Due to the current importance of developing multidisciplinary mother-child centred prevention programs, FACILITY cross-sectional study will investigate maternal and child socio-cultural, economic, environmental, health and lifestyle-related risk factors for the development of obesity. Discussion: The knowledge gained will provide the basis to develop a "primordial prevention program" to early tackle childhood obesity. Clinical trial registration: ClinicalTrials.gov, identifier (NCT06179381).},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_221,

title = {Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies},

author = {Schena E and Pini A and Cavalcante P and Siciliano G and Ricci G},

url = {https://www.actamyologica.it/article/view/1126},

doi = {10.36185/2532-1900-1126},

year  = {2025},

date = {2025-08-11},

journal = {Acta myologica: myopathies and cardiomyopathies: official journal of the Mediterranean Society of Myology },

abstract = {Emery-Dreifuss Muscular Dystrophy type 2 (EDMD2) and LMNA-related congenital muscular dystrophy (L-CMD) are caused by mutations in LMNA gene. Both pathologies are characterized by joint contractures, muscle weakness and wasting and cardiac involvement. In the last few years, circulating factors have been proposed to play a critical role in the pathogenesis of these diseases. Based on this consideration, we studied the effect of laminopathic serum on the myogenic differentiation in healthy human myoblasts in culture. We observed impaired myogenesis and increased fibrosis in myoblast cultures conditioned with laminopathic serum and a dramatic increase in the level of profibrotic and proinflammatory cytokines in the cell culture supernatants. These results strongly support the pathogenic role of circulating factors in muscular laminopathies and pave the way to a possible therapeutic strategy.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_220,

title = {DNA damage response defects induced by the formation of TDP-43 and mutant FUS cytoplasmic inclusions and their pharmacological rescue},

author = {Modafferi S and Farina S and Esposito F and Brandi O and Di Salvio M and Della Valle I and D'Uva S and Scarian E and Cicio G and Riccardi A and Pisati F and Garbelli A and Santini T and Pansarasa O and Morlando M and D'Ambrosi N and Cozzolino M and Cestra G and {d'Adda di Fagagna F} and Gioia U and Francia S},

url = {https://www.nature.com/articles/s41418-025-01530-7},

doi = {10.1038/s41418-025-01530-7},

year  = {2025},

date = {2025-08-11},

journal = {Cell death and differentiation},

abstract = {Formation of cytoplasmic inclusions (CIs) of TDP-43 and FUS, along with DNA damage accumulation, is a hallmark of affected motor neurons in Amyotrophic Lateral Sclerosis (ALS). However, the impact of CIs on DNA damage response (DDR) and repair in this pathology remains unprobed. Here, we show that CIs of TDP-43 and FUSP525L, co-localizing with stress granules, lead to a dysfunctional DDR activation associated with physical DNA breakage. Inhibition of the activity of the DDR kinase ATM, but not of ATR, abolishes DDR signaling, indicating that DNA double-strand breaks (DSBs) are the primary source of DDR activation. In addition, cells with TDP-43 and FUSP525L CIs exhibit reduced DNA damage-induced RNA synthesis at DSBs. We previously showed that the two endoribonucleases DROSHA and DICER, also known to interact with TDP-43 and FUS during small RNA processing, contribute to DDR signaling at DSBs. Treatment with enoxacin, which stimulates DDR and repair by boosting the enzymatic activity of DICER, restores a proficient DDR and reduces DNA damage accumulation in cultured cells with CIs and in vivo in a murine model of ALS. In Drosophila melanogaster, Dicer-2 overexpression rescues TDP-43-mediated retinal degeneration. In summary, our results indicate that the harmful effects caused by TDP-43 and FUS CIs include genotoxic stress and that the pharmacological stimulation of the DNA damage signaling and repair counteracts it.},

keywords = {},

pubstate = {forthcoming},

tppubtype = {article}

}

@article{%a1.%Y_219,

title = {Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review},

author = {Merlini L and Sabatelli P and Cenni V and Zanobio M and Di Martino A and Traina F and Faldini C and Nigro V and Torella A},

url = {https://www.mdpi.com/1422-0067/26/11/5387},

doi = {10.3390/ijms26115387},

year  = {2025},

date = {2025-08-11},

journal = {International journal of molecular sciences},

volume = {26},

issue = {11},

pages = {5387},

abstract = {Myopathic Ehlers-Danlos syndrome (RmEDS) is an emerging hybrid phenotype that combines connective and muscle tissue abnormalities. It has been associated with variants of the COL12A1 gene, which are known as Ullrich congenital muscular dystrophy-2 (UCMD2; 616470) and Bethlem myopathy-2 (BTHLM2; 616471). Here, we report two splicing mutations of COL12A1 identified in three patients from two unrelated families who present a combination of joint hypermobility and axial, distal, and proximal weakness. The muscular strength of their neck and limb muscles was assessed at 4/5 (MRC); however, when measured with a myometer, the expected percentage by age and sex ranged from 35% to 40% for elbow flexion, 37% to 75% for knee extension, and was 50% for neck flexion. In addition to confirming the characteristic atrophy of the rectus femoris, we presented evidence of involvement of the neck and lumbar muscles through MRI and CT imaging. In vitro studies revealed filamentous disorganization and an altered pattern of collagen XII alpha 1 chain migration due to the skipping of exons 55 and 56 of collagen XII. Additionally, we review the myopathic involvement of COL12-RM in 30 patients across 18 families with dominant mutations and 15 patients from 13 families with recessive mutations.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_218,

title = {In vitro study of cold atmospheric plasma-induced proliferation inhibition and morphological changes in head and neck carcinoma cell lines},

author = {Maravic T and Petrucci G and Giacomo VD and Mazzitelli C and Acharya TR and Kaushik NK and Choi EH and Rapino M and D'Urso D and Josic U and Caponio VCA and Micaroni M and Edoardo M and Russo LL and Muzio LL and Breschi L and Perotti V},

url = {https://www.sciencedirect.com/science/article/pii/S0300571225004518?via%3Dihub},

doi = {10.1016/j.jdent.2025.106007},

year  = {2025},

date = {2025-08-11},

journal = {Journal of dentistry},

abstract = {"Objectives: The use of cold atmospheric plasma (CAP) has been growing in medical field. Since limited data exist on the influence of CAP exposure on head and neck cancer (HNC) cells, we aimed to investigate in vitro its impact on proliferation and morphology of HNC (HSC2, HSC3, and FaDu) cells, as well as healthy gingival fibroblasts (hGF).

Methods: A CAP gas air jet was applied directly on the HSC2, HSC3, FaDu and hGF cells for 30 and 60 s; doxorubicin has been used as positive control. Inhibition of cell proliferation at different time points (24, 48, and 72 h) was investigated through MTS [3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2-(4-sulfophenyl)-2H-tetrazolium]. Morphological alterations were observed using scanning electron microscope (SEM) and transmission electron microscope (TEM). Data were statistically analyzed (p < 0.05). Results: CAP exposure of 60 s showed the highest proliferation inhibitory effects in all investigated cancer cell lines (p < 0.001). While HSC2 had the highest proliferation inhibition at 24 h, HSC3, and FaDu exhibited a positive, time-dependent inhibitory effect (24 < 48 < 72 h) after CAP exposure. Interestingly, effects of CAP in the hGF were minimal. SEM observations revealed morphological changes in HNC cells treated with CAP at 30 and 60 s. Moreover, TEM showed stressed conditions in the survived HNC cells at 48 h after CAP exposure demonstrated by the presence of multilamellar and multi-vesicular bodies. Conclusions: CAP treatment induced proliferation inhibition, morphologic changes and stressed conditions in HNC cell lines (HSC2, HSC3, and FaDu), while demonstrating limited effects on hGF cells.Clinical significance: This work characterized early cellular responses of HSC2, HSC3, and FaDu to CAP exposure, including proliferation, and morphology, as foundational data before progressing to more clinically representative models."},

keywords = {},

pubstate = {forthcoming},

tppubtype = {article}

}

@article{%a1.%Y,

title = {Exploring structure-activity relationships of pyrrolyl diketo acid derivatives as non-nucleoside inhibitors of terminal deoxynucleotidyl transferase enzyme},

author = {Madia VN and Garibaldi N and Ialongo D and Patacchini E and Tudino V and Ruggieri G and Zarbo L and Cara E and Coluccia A and Artico M and Scipione L and Messore A and Saccoliti F and Mentegari E and Maga G and Di Santo R and Crespan E and Costi R},

url = {https://www.tandfonline.com/doi/full/10.1080/14756366.2025.2496782?rfr_dat=cr_pub++0pubmed&url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org},

doi = {10.1080/14756366.2025.2496782},

year  = {2025},

date = {2025-08-11},

journal = {Journal of enzyme inhibition and medicinal chemistry},

volume = {40},

number = {1},

abstract = {Terminal deoxynucleotidyl transferase (TdT) is overexpressed in some cancer types, where it drives the mutagenic repair of double strand breaks through non canonical non-homologous end joining pathway. The TdT enzyme belongs to the X family of polymerases, together with the DNA polymerase λ (pol λ) and β (pol β). However, TdT exclusively displays template-independent nucleotide polymerisation. Pursuing our studies in developing TdT inhibitors, herein we deepened the structure-activity relationships of new structural analogues of our previously identified hit compounds. The diketo hexenoic acid derivatives here analysed showed high selectivity towards TdT and inhibition potencies spanning from the low micromolar range to the nanomolar. Docking studies highlighted the chemical features involved in the TdT binding, well contributing to the rationalisation of the structural requirements needed for the enzymatic inhibition.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_216,

title = {Mapping of RORγt+ dendritic cells in human tissues establishes their preferential niche in adult lymph nodes},

author = {Lonardi S and Bianchetto-Aguilera FM and Monti M and {Di Matteo A} and Missale F and Picinoli S and Bugatti M and Benedetti M and Ferrari G and Cassatella MA and Moratto D and Zini S and Agostini V and Savoldi V and Lorenzi L and Chiarini M and Facchetti F and Wu S and Antonova AU and Liu YA and Cella M and Ghigna C and Colonna M and Vermi W},

url = {https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2025.1527499/full},

doi = {1527499},

year  = {2025},

date = {2025-08-11},

urldate = {2025-08-11},

journal = {Frontiers in immunology},

volume = {16},

pages = {1527499},

abstract = {Background: The retinoic-acid-receptor-related orphan receptor gamma t (RORγt) isoform is required for the development of lymphoid organs, T-helper 17 cells (Th17), and innate lymphoid cells (ILC3s). Recent data in mouse and human have revealed non-T, non-ILC3 cell populations with antigen presenting features that express RORγt. This study maps the presence of RORγt cells with dendritic cell (DC) features in human adult and fetal lymphoid tissues. Methods: By combining multicolor flow cytometry, RNAseq of peripheral blood cells, analysis of lymph node scRNAseq datasets, and microscopic analysis on human tissue sections and single-cell suspensions, this study maps the presence of RORγt cells with DC features in human tissues. Results: RORγt-DCs are found in human lymphoid organs, particularly in lymph nodes. Lymph node RORγt-DCs are located in the interfollicular area surrounding high endothelial venules and in the marginal sinuses. In terms of phenotype, RORγt-DCs are distinct from other nodal dendritic cells. They express PRDM16 and PIGR as well as transcripts supporting the antigen presentation machinery, while lacking stromal markers. A significant fraction of RORγt-DCs is proliferating, suggesting local self-renewal. Moreover, most of them lack autoimmune regulator (AIRE) expression. Comparison with mouse RORγt Thetis cells (TC) and Janus cells (JC) shows more similarity with group II TC than group I and III TC or JC, all of which are tolerogenic and express AIRE. Conclusion: Overall, this study identifies human lymph nodes as a relevant niche for RORγt-DCs and establishes tools for their microscopic mapping in human disease states},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_215,

title = {Sammy Basso, his life and message, and the importance of progeria research},

author = {Lattanzi G},

url = {https://academic.oup.com/eurheartj/advance-article/doi/10.1093/eurheartj/ehaf355/8160766?login=true#google_vignette},

doi = {10.1093/eurheartj/ehaf355},

year  = {2025},

date = {2025-08-11},

journal = {European heart journal},

abstract = {not available},

keywords = {},

pubstate = {forthcoming},

tppubtype = {article}

}

@article{nokey,

title = {Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity},

author = {Lanzafame M and Brevi F and Veniali G and Botta E},

url = {https://www.sciencedirect.com/science/article/pii/S1383574225000262?via%3Dihub},

doi = {10.1016/j.mrrev.2025.108555},

year  = {2025},

date = {2025-08-11},

journal = {Mutation research. Reviews in mutation research},

abstract = {Trichothiodystrophy (TTD) is a rare hereditary disease characterized by brittle, sulphur deficient hair associated with a wide and varied spectrum of clinical features which include skin alterations, neurodevelopmental defects, and immune dysfunction. The presence of hypersensitivity to UV light defines the two main forms of TTD: photosensitive (PS-TTD) and non-photosensitive (NPS-TTD). The disease arises from mutations in a variety of genes involved in different biological processes. Affected processes include DNA repair, transcription as well as translation. This review provides the latest vision of TTD: from up-to-date mutational spectra and genotype-phenotype relationships to our current understanding of the pathogenic mechanisms that underlie the complex etiology of this multi-faceted disease.},

keywords = {},

pubstate = {forthcoming},

tppubtype = {article}

}

@article{%a1.%Y_214,

title = {Trichothiodystrophy-causative pathogenic variants impair a cooperative action of TFIIH and DDX1 in R-loop processing},

author = {Ferri D and Branca G and Lanzafame M and Gandolfi E and Riva V and Maga G and Nardo T and Landi C and Bini L and Arseni L and Peverali FA and Compe E and Orioli D},

url = {https://academic.oup.com/nar/article/53/14/gkaf745/8221718?login=true},

doi = {10.1093/nar/gkaf745},

year  = {2025},

date = {2025-08-11},

journal = {Nucleic Acids Research},

volume = {53},

issue = {14},

pages = {gkaf745},

abstract = {The transcription factor IIH (TFIIH) is a key player in transcription and DNA repair by nucleotide excision repair. It is made of 10 subunits organized in core-TFIIH and CAK sub-complexes bridged by XPD. Pathogenic variants in the ERCC2/XPD gene give rise to xeroderma pigmentosum (XP) or trichothiodystrophy (TTD), two distinct clinical entities with opposite skin cancer proneness. Here, we show that TTD variants cause a partial dissociation of the CAK from the chromatin and from the core-TFIIH. Mass spectrometry analysis reveals that the chromatin-bound CAK, as a component of the entire TFIIH, participates in a protein assembly containing the RNA-binding proteins DDX1, SFPQ, NONO as well as RNA polymerase II (Pol II). Gene silencing experiments demonstrate that the protein assembly is required to process the DNA:RNA hybrids formed during Pol II extension and to protect the cell from transcriptional stress. TTD-specific variants in ERCC2/XPD result in TFIIH instability, altered interaction of the CAK with DDX1-SFPQ-NONO, and R-loop accumulation. Therefore, the limited amount of TFIIH that distinguishes TTD from XP gives rise to transcriptional stress and extensive gene expression deregulations, thus accounting for the wide spectrum of TTD clinical features.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_209,

title = {Combining prelamin A accumulation and oxidative stress: A strategy to target glioblastoma},

author = {Marvi MV and Evangelisti C and Cerchier CB and Fazio A and Neri I and Koufi FD and Blalock WL and Cenni V and Zoli M and Asioli S and Morandi L and Franceschi E and Manzoli L and Capanni C and Ratti S},

url = {https://www.sciencedirect.com/science/article/pii/S0171933525000160?via%3Dihub},

doi = {10.1016/j.ejcb.2025.151491},

year  = {2025},

date = {2025-06-10},

urldate = {2025-06-10},

journal = {European journal of cell biology},

volume = {104},

issue = {2},

pages = {151491},

abstract = {Glioblastoma is the most aggressive and prevalent tumor of the Central Nervous System (CNS) with limited treatment options and poor patient outcomes. Standard therapies, including surgery, radiation, and chemotherapy, provide only modest survival benefits, highlighting the need for innovative therapeutic approaches. This study investigates a novel strategy targeting prelamin A processing in glioblastoma cells. By inhibiting the farnesyltransferase enzyme using SCH66336 (Lonafarnib), we promote the accumulation of lamin A precursor (prelamin A) in glioblastoma cells, thereby increasing their susceptibility to oxidative stress induced by Menadione administration, while sparing normal human astrocytes. Notably, the combined SCH66336-Menadione treatment reduced cell proliferation, modified the expression of stemness markers, and decreased viability in patient-derived glioblastoma stem cells, which represent the population responsible for tumor aggressiveness and recurrence. These findings indicate that inhibiting prelamin A processing could be a potential strategy to reduce glioblastoma aggressiveness and enhance therapeutic outcomes, particularly for treatment-resistant glioblastoma stem cell populations. This approach shows potential for integrating prelamin A processing disruption as a complementary strategy in glioblastoma therapy.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_208,

title = {A Novel Cognitive Frailty Index for Geriatric Mice},

author = {Marcozzi S and Bigossi G and Giuliani ME and Lai G and Bartozzi B and Balietti M and Casoli T and Orlando F and Amoroso A and Giacconi R and Cardelli M and Piacenza F and Lattanzio F and Olivieri F and de Keizer PLJ and {d'Adda di Fagagna F} and Malavolta M},

url = {https://onlinelibrary.wiley.com/doi/10.1111/acel.70056},

doi = {10.1111/acel.70056},

year  = {2025},

date = {2025-06-10},

journal = {Aging Cell},

abstract = {Loss of cognitive function is a significant challenge in aging, and developing models to understand and target cognitive decline is crucial for the development of Geroscience-based interventions. Aged mice offer a valuable model as they share features of cognitive decline with humans. Despite numerous studies, knowledge of longitudinal age-related cognitive changes and cognitive frailty in naturally aging mice is limited, particularly in cohorts exceeding 30 months of age, where cognitive decline is more pronounced. Moreover, the impaired physical function of aged mice is known to affect latency-based strategies to measure cognitive performances. Here, we show a comprehensive longitudinal assessment using the Barnes Maze test in a large cohort of 424 aged (≥ 21 months) C57BL/6J mice. We introduced a new metric, the Cognitive Frailty Index (CoFI), which summarizes different age-associated Barnes Maze parameters into a unique function. CoFI strongly associates with advancing age and mortality, offering a reliable ability to discriminate long- and short-lived mice. We also established a CoFI cut-off and a physically adjusted CoFI, both of which can distinguish between physical and cognitive frailty. This is further supported by the enhanced predictive power when physical and cognitive frailty are combined to assess short-term mortality. Moreover, the computation method for CoFI is adaptable to various cognitive assessment tests, leveraging procedures akin to those used for calculating other frailty indices. In conclusion, through robust longitudinal tracking, CoFI has the potential to become an important ally in assessing the effectiveness of Geroscience-based interventions to counteract age-related cognitive impairment.},

keywords = {},

pubstate = {forthcoming},

tppubtype = {article}

}

@article{%a1.%Y_207,

title = {Amy and Friends: improving the lives of individuals affected by DNA repair disorders},

author = {Hughes J and Orioli D and Arseni L},

url = {https://febs.onlinelibrary.wiley.com/doi/10.1002/1873-3468.70049},

doi = {10.1002/1873-3468.70049},

year  = {2025},

date = {2025-06-10},

journal = {FEBS letters},

volume = {599},

issue = {10},

pages = {1339-1345},

abstract = {DNA repair disorders are rare genetic conditions characterized by defects in the mechanisms responsible for repairing damaged DNA. DNA damage occurs frequently due to environmental factors, and in healthy cells, repair systems fix this damage to maintain genomic integrity. In individuals with DNA repair disorders, these mechanisms are impaired, leading to accumulated damage, cellular dysfunction, premature aging, and cell death. Symptoms vary depending on the specific repair pathway defect, with examples including Cockayne syndrome (CS), trichothiodystrophy (TTD), and xeroderma pigmentosum. Amy and Friends was founded by Jayne Hughes in the UK in 2007 to support children/young adults and families suffering from CS, TTD, and linked DNA repair disorders. In this second of a new series on patient advocacy, FEBS Letters interviews Founder and CEO Jayne Hughes and molecular geneticist and specialist team member Prof. Donata Orioli on the aims, achievements, and activities of Amy and Friends.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y_206,

title = {Surface Charge Overrides Protein Corona Formation in Determining the Cytotoxicity, Cellular Uptake, and Biodistribution of Silver Nanoparticles},

author = {Barbalinardo M and Chiarini F and Teti G and Paganelli F and Mercadelli E and Bartoletti A and Migliori A and Piazzi M and Bertacchini J and Sena P and Sanson A and Falconi M and Palumbo C and Cavallini M and Gentili D},

url = {https://pubs.acs.org/doi/10.1021/acsabm.5c00392},

doi = {10.1021/acsabm.5c00392},

year  = {2025},

date = {2025-06-10},

urldate = {2025-06-10},

journal = {ACS applied bio materials},

volume = {8},

issue = {6},

pages = {5032-5043},

abstract = {Silver nanoparticles (AgNPs) hold great promise in biomedical applications due to their unique properties and potential for specific tissue targeting. However, the clinical translation of nanoparticle-based therapeutics remains challenging, primarily due to an incomplete understanding of how nanoparticle properties influence interactions at the nano-bio interface, as well as the role of surface-adsorbed proteins (i.e., protein corona) in modulating nanoparticle-cell interactions. This study demonstrates that the surface charge has a greater influence than protein corona formation in determining the cytotoxicity, cellular uptake, and biodistribution of AgNPs. Using negatively and positively charged AgNPs, we show that while protein corona formation is essential for ensuring nanoparticle availability for cellular interactions, the adsorption of biomolecules is nonspecific and independent of surface charge. Conversely, the surface charge significantly influences the interactions of AgNPs with cells. Positively charged nanoparticles exhibit enhanced cellular uptake, preferential accumulation in lysosomes, and pronounced mitochondrial damage compared to their negatively charged counterparts, resulting in greater cytotoxic effects. This effect is particularly evident in human breast cancer cells, where negatively charged nanoparticles show minimal uptake and cytotoxicity. These findings demonstrate that surface charge is the primary factor governing nanoparticle-cell interactions rather than protein corona formation. Nonetheless, the protein corona plays a critical role in stabilizing nanoparticles in physiological environments.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y__198,

title = {The complex interplay between aging and cancer},

author = {Trastus LA and {d'Adda di Fagagna F}},

url = {https://www.nature.com/articles/s43587-025-00827-z},

doi = {10.1038/s43587-025-00827-z},

year  = {2025},

date = {2025-04-09},

journal = {Nature aging},

volume = {5},

issue = {3},

pages = {350-365},

abstract = {Cancer is an age-related disease, but the interplay between cancer and aging is complex and their shared molecular drivers are deeply intertwined. This Review provides an overview of how different biological pathways affect cancer and aging, leveraging evidence mainly derived from animal studies. We discuss how genome maintenance and accumulation of DNA mutations affect tumorigenesis and tissue homeostasis during aging. We describe how age-related telomere dysfunction and cellular senescence intricately modulate tumor development through mechanisms involving genomic instability and inflammation. We examine how an aged immune system and chronic inflammation shape tumor immunosurveillance, fueling DNA damage and cellular senescence. Finally, as animal models are important to untangling the relative contributions of these aging-modulated pathways to cancer progression and to test interventions, we discuss some of the limitations of physiological and accelerated aging models, aiming to improve experimental designs and enhance translation.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y__197,

title = {V-ATPase in glioma stem cells: a novel metabolic vulnerability},

author = {Storaci AM and Bertolini I and Martelli C and De Turris G and Mansour N and Crosti M and De Filippo MR and Ottobrini L and Valenti L and Polledri E and Fustinoni S and Caroli M and Fanizzi C and Bosari S and Ferrero S and Zadra G and Vaira V},

url = {https://jeccr.biomedcentral.com/articles/10.1186/s13046-025-03280-3},

doi = {10.1186/s13046-025-03280-3},

year  = {2025},

date = {2025-04-09},

urldate = {2025-04-09},

journal = {Journal of experimental & clinical cancer research},

volume = {44},

issue = {1},

pages = {17},

abstract = {Background: Glioblastoma (GBM) is a lethal brain tumor characterized by the glioma stem cell (GSC) niche. The V-ATPase proton pump has been described as a crucial factor in sustaining GSC viability and tumorigenicity. Here we studied how patients-derived GSCs rely on V-ATPase activity to sustain mitochondrial bioenergetics and cell growth.,Methods: V-ATPase activity in GSC cultures was modulated using Bafilomycin A1 (BafA1) and cell viability and metabolic traits were analyzed using live assays. The GBM patients-derived orthotopic xenografts were used as in vivo models of disease. Cell extracts, proximity-ligation assay and advanced microscopy was used to analyze subcellular presence of proteins. A metabolomic screening was performed using Biocrates p180 kit, whereas transcriptomic analysis was performed using Nanostring panels. Results: Perturbation of V-ATPase activity reduces GSC growth in vitro and in vivo. In GSC there is a pool of V-ATPase that localize in mitochondria. At the functional level, V-ATPase inhibition in GSC induces ROS production, mitochondrial damage, while hindering mitochondrial oxidative phosphorylation and reducing protein synthesis. This metabolic rewiring is accompanied by a higher glycolytic rate and intracellular lactate accumulation, which is not exploited by GSCs for biosynthetic or survival purposes. Conclusions: V-ATPase activity in GSC is critical for mitochondrial metabolism and cell growth. Targeting V-ATPase activity may be a novel potential vulnerability for glioblastoma treatment.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y__196,

title = {Synthesis and biological investigation of peptidomimetic SARS-CoV-2 main protease inhibitors bearing quinoline-based heterocycles at P3},

author = {Rossi S and Deidda G and Fiaschi L and Ibba R and Pieroni M and Dichiara M and Carullo G and Butini S and Ramunno A and Brogi S and Lolicato M and Arrigoni C and Cabella N and Bavagnoli L and Maga G and Varasi I and Biba C and Vicenti I and Gemma S and Crespan E and Zazzi M and Campiani G},

url = {https://onlinelibrary.wiley.com/doi/10.1002/ardp.202400812},

doi = {10.1002/ardp.202400812},

year  = {2025},

date = {2025-04-09},

journal = {Archiv der Pharmazie},

volume = {358},

issue = {1},

pages = {e240081},

abstract = {In the last few years, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been the cause of a worldwide pandemic, highlighting the need for novel antiviral agents. The main protease (Mpro) of SARS-CoV-2 was immediately identified as a crucial enzyme for viral replication and has been validated as a drug target. Here, we present the design and synthesis of peptidomimetic Mpro covalent inhibitors characterized by quinoline-based P3 moieties. Structure-activity relationships (SARs) were also investigated at P1 and P2, as well as for different warheads. The binding modes of the designed inhibitors were assessed using X-ray crystallographic and molecular docking studies. The identified Mpro inhibitors were tested for their antiviral activities in cell-based assays, and the results were encouraging. The SAR studies presented here can contribute to the future design of improved inhibitors by addressing some of the current or prospective issues regarding Mpro inhibitors currently used in therapy.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y__195,

title = {Angiogenic Events Positively Modulated by Complex Magnetic Fields in an In Vitro Endothelial Cell Model},

author = {Ricci A and Cataldi A and Gallorini M and di Giacomo V and Rapino M and Di Pietro N and Mantarro M and Piattelli A and Zara S},

url = {https://www.mdpi.com/2073-4409/14/5/332},

doi = {10.3390/cells14050332},

year  = {2025},

date = {2025-04-08},

journal = {Cells},

volume = {14},

issue = {5},

pages = {332},

abstract = {The vascular system is primarily responsible for orchestrating the underlying healing processes to achieve tissue regeneration, thus the promotion of angiogenic events could be a useful strategy to repair injured tissues. Among several approaches to stimulate tissue regeneration, non-invasive devices are currently widely diffused. Complex Magnetic Fields (CMFs) are innovative pulsed multifrequency electromagnetic fields used for their promising results in clinical applications, such as diabetic foot treatment or edema resorption. Nevertheless, few papers are available demonstrating the biological mechanisms involved. In this paper, in order to understand CMFs' capability to promote angiogenic events, Regenerative Tissue Program (RTP) was applied to an in vitro Endothelial Cells (ECs) model. ECs were stimulated with (I) 2 RTP consecutive cycles, (II) with an interval of 8 h (T0 + T8), or (III) 24 h (T0 + T24) from one cycle to another. Results demonstrate that (I) extracellular matrix degradation is promoted through matrix metalloproteinases 2 and 9 modulation, leading to an increased cell migratory capability; (II) CMFs support EC growth, activating Integrin β1-Erk-Cdk2 pathway and sustaining G1/S transition; (III) vessel morphogenesis is promoted when CMFs are applied. In conclusion, the promising clinical results are supported by in vitro analyses which evidence that main angiogenic events are stimulated by CMFs.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y__194,

title = {On the tracks of an uninvited guest, the Asian tiger mosquito, Aedes albopictus in Cyprus},

author = {Piccinno R and Fiorenza G and Vasquez MI and Bouyer J and Notarides G and Gomulski LM and Meletiou S and Akiner M and Michaelakis A and Forneris F and Maga G and Gasperi G and Malacrida AR},

url = {https://parasitesandvectors.biomedcentral.com/articles/10.1186/s13071-024-06651-5},

doi = {10.1186/s13071-024-06651-5},

year  = {2025},

date = {2025-04-08},

urldate = {2025-04-08},

journal = {Parasites & vectors},

volume = {18},

issue = {1},

pages = {39},

abstract = {Background: Aedes albopictus, the Asian tiger mosquito, which is listed among the world's 100 most dangerous invasive species, is the main vector of chikungunya, dengue and Zika viruses. This mosquito species has rapidly dispersed and invaded much of the globe assisted by its life history traits and high propagule pressure driven by human activities. Aedes albopictus is currently widespread across mainland Europe and the Mediterranean region, including the islands. Cyprus remained free of Ae. albopictus until October 2022, when specimens were recorded for the first time in Limassol district, including the port area. Understanding the processes associated with the introduction, expansion and establishment of this vector in Cyprus is of primary importance to mitigate its dispersal on the island, and to implement control methods to prevent disease outbreaks. A genetic analysis of these invasive specimens collected in Limassol district and in areas from the Central Mediterranean was performed to obtain a genetic portrait of the demographic history of the invasive mosquitoes on Cyprus. Methods: We applied highly polymorphic simple sequence repeat (SSR) markers to the Ae. albopictus mosquitoes collected in Cyprus and to specimens from Italy, France, Switzerland, the Balkans, Greece and Turkey to construct an SSR individual genotype dataset that would enable the invasion pattern of Ae. albopictus in Cyprus to be traced. Bayesian clustering analyses using STRUCTURE and BayesAss version 3 were employed to derive information on the degree of ancestry among Cypriot and Mediterranean mosquitoes and on recent mosquito movements both within Cyprus and between Cyprus and the Central Mediterranean areas. Results: The Cypriot mosquitoes appear to be highly polymorphic with no signs of genetic drift due to recent founder effects. An ongoing mosquito dispersal within the Limassol district was detected, suggesting the presence of established, hidden adventive populations. These mosquitoes share a high degree of ancestry with those in the Balkans and parts of northern Italy that border the Adriatic Sea. Conclusions: Considering the trade connections of Limassol port, Cyprus with the Balkans and the Adriatic Italian region, we hypothesise that these areas may be involved in the incursion of Ae. albopictus into Cyprus. As the Balkan and Italian mosquitoes display high competence for CHIKV, questions arise about possible arbovirus outbreaks in Cyprus and highlight the need to implement surveillance and control measures.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{%a1.%Y__193,

title = {At the nucleus of cancer: how the nuclear envelope controls tumor progression},

author = {Paganelli F and Poli A and Truocchio S and Martelli AM and Palumbo C and Lattanzi G and Chiarini F},

url = {https://pmc.ncbi.nlm.nih.gov/articles/PMC11758262/},

doi = {10.1002/mco2.70073},

year  = {2025},

date = {2025-04-08},

journal = {MedComm},

volume = {6},

issue = {2},

pages = {e70073},

abstract = {Historically considered downstream effects of tumorigenesis-arising from changes in DNA content or chromatin organization-nuclear alterations have long been seen as mere prognostic markers within a genome-centric model of cancer. However, recent findings have placed the nuclear envelope (NE) at the forefront of tumor progression, highlighting its active role in mediating cellular responses to mechanical forces. Despite significant progress, the precise interplay between NE components and cancer progression remains under debate. In this review, we provide a comprehensive and up-to-date overview of how changes in NE composition affect nuclear mechanics and facilitate malignant transformation, grounded in the latest molecular and functional studies. We also review recent research that uses advanced technologies, including artificial intelligence, to predict malignancy risk and treatment outcomes by analyzing nuclear morphology. Finally, we discuss how progress in understanding nuclear mechanics has paved the way for mechanotherapy-a promising cancer treatment approach that exploits the mechanical differences between cancerous and healthy cells. Shifting the perspective on NE alterations from mere diagnostic markers to potential therapeutic targets, this review calls for further investigation into the evolving role of the NE in cancer, highlighting the potential for innovative strategies to transform conventional cancer therapies.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}