Ruggiero Norfo

@unimore.it

Researcher at Interdepartmental Centre for Stem Cells and Regenerative Medicine (CIDSTEM)
University of Modena and Reggio Emilia

Ruggiero Norfo


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https://researchid.co/rugnorfo

RESEARCH, TEACHING, or OTHER INTERESTS

Cancer Research, Cell Biology
32

Scopus Publications

Scopus Publications

  • PRE-CLINICAL EFFICACY OF A NOVEL COMBINED PHARMACOLOGICAL APPROACH TARGETING JAK AND ERK IN A MYELOFIBROSIS MOUSE MODEL
    Matteo Bertesi
    Haematologica, 2026
    Introduction: Myelofibrosis (MF) is the most severe form of Philadelphia–negative myeloproliferative neoplasms (MPNs), characterized by high risk of leukemic transformation and reduced survival. Neoplastic transformation is linked to somatic mutations in JAK/STAT pathway arising in the hematopoietic stem cell compartment, while MF pathology is defined by clonal myeloproliferation, extramedullary hematopoiesis with splenomegaly, chronic inflammation and extensive bone marrow fibrosis. Currently, the molecular basis of abnormal cytokine production and the altered interaction between malignant hematopoietic cells and the bone marrow microenvironment in MF pathogenesis remains unclear, and JAK1/2 inhibitors, while effective in reducing splenomegaly and inflammation-related symptoms, fail to address BM fibrosis and disease burden in most patients. A key mediator in bone marrow fibrosis development is Osteopontin (OPN), a pro-fibrotic molecule induced by MAPK signalling and JAK/STAT pathway hyperactivation driving MF pathogenesis. This study aimed at identifying a rapidly translatable and effective therapeutic strategy to counteract OPN production and provide a new potential druggable approach to restore bone marrow microenvironment in MF patients. Methods: With the aim of defining a pharmacological strategy to restore bone marrow microenvironment in MF, we selected Cobimetinib - a MEK1 inhibitor of MAPK pathway already approved for clinical use - to test a combined treatment against OPN overproduction and JAK2 hyperactivation. Thrombopoietin receptor agonist-treated mice developing thrombocytosis, bone marrow fibrosis and splenomegaly were used to test a dual JAK/ERK inhibition strategy comprising Ruxolitinib and Cobimetinib, and its efficacy was evaluated in terms of symptoms improvement.Results: The efficacy study in this murine model of myeloproliferation showed the ability of Cobimetinib monotherapy to reduce OPN plasma levels and to mitigate fibrosis to a greater extent than Ruxolitinib treatment alone. Strikingly, combined therapy Cobimetinib plus Ruxolitinib showed a synergistic effect in reducing MF-associated symptoms. Specifically, combined treatment has demonstrated greater efficacy in reducing spleen index if compared to Ruxolitinib treatment alone and in reducing bone marrow fibrosis when compared to Cobimetinib monotherapy. Conclusions: These data demonstrate the translational relevance of the combined treatment of Cobimetinib and Ruxolitinib in counteracting MF hallmark of pathology in a preclinical model of myelofibrosis, defining a rationale for the development of novel combinatory therapy able to target both clonal myeloproliferation and fibrotic microenvironment in MF patients.
  • SINGLE-CELL MULTI-OMICS UNRAVELS MOLECULAR AND CELLULAR PROGRAMS UNDERLYING RUXOLITINIB RESPONSE IN MYELOFIBROSIS
    Chiara Carretta
    Haematologica, 2026
    Introduction: Myelofibrosis (MF) is a clonal hematological disease originating by the sequential acquisition of somatic mutations in hematopoietic stem and progenitor cells (HSPC). Alongside so-called “driver mutations” triggering the constitutive activation of JAK-STAT pathway and inducing myeloproliferation, MF may present with additional mutations often affecting epigenetic regulators. The JAK-inhibitor Ruxolitinib (Ruxo) effectively relieves MF symptoms but rarely eradicates the malignant clone, with highly variable responses among patients. Understanding the molecular mechanisms underlying Ruxo heterogeneous efficacy is essential to improve therapeutic strategies.Methods: To elucidate the clonal dynamics associated with Ruxo response, we conducted a longitudinal single-cell (SC) proteogenomic study on 12 MF patients (6 responders and 6 non-responders, as defined by clinical features) at diagnosis and after at least 6 months of Ruxo therapy. Cryopreserved peripheral blood mononuclear cells and CD34+ HSPC from each time point were analyzed through Tapestri platform. Next, longitudinal samples from a Responder and a Non-responder patient form the same cohort were subjected to SC-RNA+protein analysis by means of 10X genomics platform.Results: Ruxo responders showed a marked reduction in circulating CD34+ cells and a decrease in JAK2V617F allele frequency in granulocytes. SC-genomic analysis revealed that the mutation acquisition order determines Ruxo sensitivity: patients in whom the driver mutation either occurred alone or preceded mutations in TET2 or ASXL1 generally responded to therapy, while those in whom epigenetic mutations arose first exhibited limited therapeutic benefit. Using SC-proteomics we identified 14 HSPC and differentiated cell clusters and differences in the clonal dynamics of CD34+ and CD34- cells were observed. Non-responders displayed post-treatment expansion of highly mutated monocytes, suggesting myeloid lineage–driven resistance, whereas responders exhibited an increase in wild-type monocytes. Conversely, in CD34+ cells from responders, we observed both a reduction in driver-homozygous cells and an expansion of heterozygous co-mutated clones despite Ruxo treatment. Notably, despite MF being a primarily myeloid disorder, a fraction of mutated T and B cells was also detected, particularly in non-responders. SC-RNA+protein profiling recapitulated the cellular heterogeneity observed in the SC-proteogenomic dataset, revealing persistent activation of JAK-mediated interferon-response signaling in non-responder monocytes upon treatment, while this pathway was suppressed in responders.Conclusions: Our data demonstrate that the order of mutation acquisition impacts Ruxo response in MF patients. Ruxo primarily affects JAK2-only mutated clones. As a result, co-mutated clones may evade this treatment and outcompete other neoplastic cell populations, thus contributing to disease persistence.
  • CD9 DEFINES THE DISEASE-PROPAGATING HEMATOPOIETIC STEM CELL POPULATION IN MYELOFIBROSIS
    Ruggiero Norfo
    Haematologica, 2026
    Introduction. Myeloproliferative neoplasms (MPNs) are clonal hematopoietic disorders, among which myelofibrosis (MF) represents the most severe form. MF is marked by progressive bone marrow fibrosis, worsening cytopenia, and a median overall survival of approximately five years. The disease originates from the expansion of a single hematopoietic stem and progenitor cell (HSPC) that has acquired somatic driver mutations in JAK2, CALR, or MPL, followed by additional cooperating mutations that promote clonal dominance over wild-type HSPCs. Although current therapies, including JAK inhibitors, provide symptomatic benefit, they fail to eradicate the malignant HSPC pool or induce molecular remission. Therefore, identifying and characterizing the stem cell population that sustains the MF clone is essential for developing curative strategies.Methods. HSPCs were purified from peripheral blood samples, collected from MF patients with JAK2, CALR, or MPL driver mutations and healthy donors (HDs). We performed RNA sequencing on purified HSPCs from 13 MF samples and 5 HDs, focusing on surface molecules with higher expression in MF. Candidate markers were then assessed by flow cytometry in an expanded cohort (30 MF, 15 HDs).To explore whether CD9 expression identified the neoplastic stem cell population, we performed single-cell mutational profiling combined with surface protein analysis using the Tapestri platform (Mission Bio) in 8 MF patients. CD9+ and CD9- HSCs from both MF and HD samples were compared in clonogenic and differentiation assays in vitro. Finally, the disease-propagating potential of each population was tested through patient-derived xenografts, generated by transplanting sorted cells into sub-lethally irradiated NSGS mice.Results. Transcriptomic profiling highlighted CD9 as one of the most upregulated surface molecules in MF HSPCs. Flow cytometry confirmed a clear expansion of the CD9+ HSPC compartment in patient samples. Single-cell proteogenomics data then revealed that the majority of mutated HSPCs clustered within the CD9+ fraction, supporting CD9 expression as a phenotypic marker of the malignant stem cell population.In functional assays performed in vitro, MF CD9+ HSPCs exhibited a more primitive phenotype and enhanced clonogenic potential unlike healthy and MF CD9- HSPCs. Our in vivo data further indicate that CD9+ MF HSPCs displayed higher engraftment levels relative to their CD9- counterparts, supporting their role as key disease-propagating cells.Conclusions. Across MF patients with distinct driver mutations, CD9 marks an expanded, mutation-enriched HSPC population with enhanced clonogenic activity and disease-propagating potential. These findings support CD9 as a promising surface marker of MF HSPCs, with potential implications for future therapeutic targeting aimed at eradicating the malignant clone.
  • Combined MEK and JAK inhibition reduces osteopontin plasma level and bone marrow fibrosis in a myelofibrosis mouse model
    Lara Tavernari, Matteo Bertesi, Anita Neroni, Elisa Papa, Sebastiano Rontauroli, Elisa Bianchi, Margherita Mirabile, Ruggiero Norfo, Sandra Parenti, Camilla Tombari, Chiara Carretta, Marica Malerba, Luca Fabbiani, Paola Guglielmelli, Lorena Losi, Enrico Tagliafico, Alessandro Maria Vannucchi, Rossella Manfredini, and
    Blood Cancer Journal, 2025
    Myelofibrosis (MF), either primary or secondary, is the most aggressive among Philadelphia-negative myeloproliferative neoplasms (MPNs), since it is characterized by an increased risk of leukemic progression and an inferior life expectancy [ 1 ]. Key features of MF include clonal myeloproliferation, extramedullary hematopoiesis, extensive bone marrow (BM) fibrosis deposition, and chronic inflammation [ 2 ]. MF progression is primarily driven by neoplastic clone hyperproliferation and the excessive production of proinflammatory and profibrotic mediators [ 3 ]. While considerable progress has been made in identifying the genomic alterations responsible for clonal myeloproliferation, particularly driver mutations in JAK2 , MPL , and CALR that activate the JAK/STAT pathway [ 4 ], the molecular mechanisms underlying the abnormal mediator production and the disrupted interaction between malignant hematopoietic cells and the BM microenvironment are still not fully understood. Currently, with the exception of hematopoietic stem cell transplantation, no medical or pharmacologic treatment cures MF. Targeted JAK1/2 inhibitors, while effective in reducing splenomegaly and inflammation-related symptoms, fail to address BM fibrosis and disease burden in most patients [ 5 , 6 ]. Therefore, the development of novel therapeutic strategies aimed at restoring BM architecture and targeting both clonal myeloproliferation and fibrosis remains a critical unmet need in MF management.
  • Ancient genomic linkage of α-globin and Nprl3 couples metabolism with erythropoiesis
    Alexandra E. Preston, Joe N. Frost, Megan R. Teh, Mohsin Badat, Andrew E. Armitage, Ruggiero Norfo, Sarah K. Wideman, Muhammad Hanifi, Natasha White, Noémi BA. Roy, Christian Babbs, Bart Ghesquiere, James Davies, Andrew JM. Howden, Linda V. Sinclair, Jim R. Hughes, Mira Kassouf, Rob Beagrie, Douglas R. Higgs, Hal Drakesmith
    Nature Communications, 2025
    Red blood cell development from erythroid progenitors requires profound reshaping of metabolism and gene expression. How these transcriptional and metabolic alterations are coupled is unclear. Nprl3 (an inhibitor of mTORC1) has remained in synteny with the α-globin genes for >500 million years, and harbours most of the a-globin enhancers. However, whether Nprl3 serves an erythroid role is unknown. We found that while haematopoietic progenitors require basal Nprl3 expression, erythroid Nprl3 expression is further boosted by the α-globin enhancers. This lineage-specific upregulation is required for sufficient erythropoiesis. Loss of Nprl3 affects erythroblast metabolism via elevating mTORC1 signalling, suppressing autophagy and disrupting glycolysis. Broadly consistent with these murine findings, human NPRL3-knockout erythroid progenitors produce fewer enucleated cells and demonstrate dysregulated mTORC1 signalling in response to nutrient availability and erythropoietin. Therefore, we propose that the anciently conserved linkage of NprI3, α-globin and their associated enhancers has coupled metabolic and developmental control of erythropoiesis.
  • CD44 Participates to Extramedullary Haematopoiesis Onset by Mediating the Interplay Between Monocytes and Haematopoietic Stem Cells in Myelofibrosis
    Margherita Mirabile, Camilla Tombari, Anita Neroni, Lara Tavernari, Ruggiero Norfo, et al.
    Journal of Cellular and Molecular Medicine, 2025
    Extramedullary haematopoiesis (EMH) refers to blood generation outside of the bone marrow (BM). In Myelofibrosis (MF), a myeloproliferative neoplasm, the disruption of BM microenvironment promotes haematopoietic stem and progenitor cells (HSPCs) mobilisation, resulting in the onset of EMH in the spleen, and then in splenomegaly. Although JAK2 inhibitors have a good efficacy in reducing splenomegaly, the presence of a significant proportion of non‐responder patients underlines the need to explore the cellular mechanisms responsible for the EMH onset. In a MF mouse model, Ruxolitinib induces a reduction in spleen volume but does not affect EMH. CD44 inhibition successfully reduces monocyte and HSPC migration in an in vitro extravasation model. Strikingly, MF monocytes are more effective in promoting HSPC migration through the production of hyaluronic acid. Collectively, our results demonstrate that CD44 regulates the migration of monocytes that are crucial for the onset of EMH in MF patients, as they produce CD44 ligands recruiting HSPCs from the BM.
  • Supra-Physiological Levels of Magnesium Counteract the Inhibitory Effect of Zoledronate on RANKL-Dependent Osteoclastogenesis
    Lorenzo Caselli, Lisa De Pasquale, Rossella Palumbo, Silvia Ricchiuto, Monica Montanari, Sebastiano Rontauroli, Alessandra Ottani, Ruggiero Norfo, Tommaso Zanocco-Marani, Alexis Grande
    Biology, 2025
    Bisphosphonates (BPs) are drugs used to cure metabolic diseases like osteoporosis and oncological conditions, such as multiple myeloma and bone metastases. The pharmacological activity of these compounds is mediated by their capacity to induce a systemic osteoclast depletion, finally resulting in reduced bone resorption. In spite of their efficacy, the clinical application of BPs is sometimes associated with a frightening side effect known as osteonecrosis of the jaw (ONJ). In principle, a therapeutic approach able to elicit the local re-activation of osteoclast production could counteract the onset of ONJ and promote the healing of its lesions. Using a vitamin D3-dependent model of osteoclast differentiation, it has been previously demonstrated that when used at supra-physiological concentrations, magnesium strongly favors the process under consideration, and its effect is furtherly enhanced by the presence of a BP called zoledronate. Here, we show that similar results can be obtained in a RANKL-dependent model of osteoclast differentiation, suggesting that a topical therapy based on magnesium may be also suitable for ONJ determined by denosumab in light of the ability of this monoclonal antibody to target RANKL.
  • A proinflammatory stem cell niche drives myelofibrosis through a targetable galectin-1 axis
    Rong Li, Michela Colombo, Guanlin Wang, Antonio Rodriguez-Romera, Camelia Benlabiod, Natalie J. Jooss, Jennifer O’Sullivan, Charlotte K. Brierley, Sally-Ann Clark, Juan M. Pérez Sáez, Pedro Aragón Fernández, Erwin M. Schoof, Bo Porse, Yiran Meng, Abdullah O. Khan, Sean Wen, Pengwei Dong, Wenjiang Zhou, Nikolaos Sousos, Lauren Murphy, Matthew Clarke, Aude-Anais Olijnik, Zoë C. Wong, Christina Simoglou Karali, Korsuk Sirinukunwattana, Hosuk Ryou, Ruggiero Norfo, Qian Cheng, Joana Carrelha, Zemin Ren, Supat Thongjuea, Vijay A. Rathinam, Anandi Krishnan, Daniel Royston, Gabriel A. Rabinovich, Adam J. Mead, Bethan Psaila
    Science Translational Medicine, 2024
    Myeloproliferative neoplasms are stem cell–driven cancers associated with a large burden of morbidity and mortality. Most patients present with early-stage disease, but a substantial proportion progress to myelofibrosis or secondary leukemia, advanced cancers with a poor prognosis and high symptom burden. Currently, it remains difficult to predict progression, and therapies that reliably prevent or reverse fibrosis are lacking. A major bottleneck to the discovery of disease-modifying therapies has been an incomplete understanding of the interplay between perturbed cellular and molecular states. Several cell types have individually been implicated, but a comprehensive analysis of myelofibrotic bone marrow is lacking. We therefore mapped the cross-talk between bone marrow cell types in myelofibrotic bone marrow. We found that inflammation and fibrosis are orchestrated by a “quartet” of immune and stromal cell lineages, with basophils and mast cells creating a TNF signaling hub, communicating with megakaryocytes, mesenchymal stromal cells, and proinflammatory fibroblasts. We identified the β-galactoside–binding protein galectin-1 as a biomarker of progression to myelofibrosis and poor survival in multiple patient cohorts and as a promising therapeutic target, with reduced myeloproliferation and fibrosis in vitro and in vivo and improved survival after galectin-1 inhibition. In human bone marrow organoids, TNF increased galectin-1 expression, suggesting a feedback loop wherein the proinflammatory myeloproliferative neoplasm clone creates a self-reinforcing niche, fueling progression to advanced disease. This study provides a resource for studying hematopoietic cell–niche interactions, with relevance for cancer-associated inflammation and disorders of tissue fibrosis.
  • Targeting exhausted cytotoxic T cells through CTLA-4 inhibition promotes elimination of neoplastic cells in human myelofibrosis xenografts
    Lara Tavernari, Sebastiano Rontauroli, Ruggiero Norfo, Margherita Mirabile, Monica Maccaferri, Barbara Mora, Elena Genovese, Sandra Parenti, Chiara Carretta, Elisa Bianchi, Matteo Bertesi, Francesca Pedrazzi, Elena Tenedini, Silvia Martinelli, Maria Teresa Bochicchio, Paola Guglielmelli, Leonardo Potenza, Alessandro Lucchesi, Francesco Passamonti, Enrico Tagliafico, Mario Luppi, Alessandro Maria Vannucchi, Rossella Manfredini, and
    American Journal of Hematology, 2024
    Myeloproliferative neoplasms represent a group of clonal hematopoietic disorders of which myelofibrosis (MF) is the most aggressive. In the context of myeloid neoplasms, there is a growing recognition of the dysregulation of immune response and T‐cell function as significant contributors to disease progression and immune evasion. We investigated cytotoxic T‐cell exhaustion in MF to restore immune response against malignant cells. Increased expression of inhibitory receptors like CTLA‐4 was observed on cytotoxic T cells from MF patients together with a reduced secretion of IFNɣ and TNFɑ. CTLA‐4 ligands CD80 and CD86 were increased on MF granulocytes and monocytes highlighting a possible role for myeloid cells in suppressing T‐cell activation in MF patients. Unlike healthy donors, the activation of cytotoxic T cells from MF patients was attenuated in the presence of myeloid cells and restored when T cells were cultured alone or treated with anti‐CTLA‐4. Moreover, anti‐CTLA‐4 treatment promoted elimination of neoplastic monocytes and granulocytes in a co‐culture system with cytotoxic T cells. To test CTLA‐4 inhibition in vivo, patient‐derived xenografts were generated by transplanting MF CD34+ cells and by infusing homologous T cells in NSGS mice. CTLA‐4 blockade reduced human myeloid chimerism and led to T‐cell expansion in spleen and bone marrow. Overall, these findings shed light on T‐cell dysfunction in MF and suggest that CTLA‐4 blockade can boost the cytotoxic T cell‐mediated immune response against tumor cells.
  • Chromosome 9p trisomy increases stem cells clonogenic potential and fosters T-cell exhaustion in JAK2-mutant myeloproliferative neoplasms
    Chiara Carretta, Sandra Parenti, Matteo Bertesi, Sebastiano Rontauroli, Filippo Badii, Lara Tavernari, Elena Genovese, Marica Malerba, Elisa Papa, Samantha Sperduti, Elena Enzo, Margherita Mirabile, Francesca Pedrazzi, Anita Neroni, Camilla Tombari, Barbara Mora, Margherita Maffioli, Marco Mondini, Marco Brociner, Monica Maccaferri, Elena Tenedini, Silvia Martinelli, Niccolò Bartalucci, Elisa Bianchi, Livio Casarini, Leonardo Potenza, Mario Luppi, Enrico Tagliafico, Paola Guglielmelli, Manuela Simoni, Francesco Passamonti, Ruggiero Norfo, Alessandro Maria Vannucchi, Rossella Manfredini, and
    Leukemia, 2024
    JAK2V617F is the most recurrent genetic mutation in Philadelphia-negative chronic Myeloproliferative Neoplasms (MPNs). Since the JAK2 locus is located on Chromosome 9, we hypothesized that Chromosome 9 copy number abnormalities may be a disease modifier in JAK2V617F-mutant MPN patients. In this study, we identified a subset of MPN patients with partial or complete Chromosome 9 trisomy (+9p patients), who differ from JAK2V617F-homozygous MPN patients as they carry three JAK2 alleles as well as three copies of all neighboring gene loci, including CD274, encoding immunosuppressive Programmed death-ligand 1 (PD-L1) protein. Investigation of the clonal hierarchy revealed that the JAK2V617F occurs first, followed by +9p. Functionally, CD34+ cells from +9p MPN patients demonstrated increased clonogenicity, generating a greater number of primitive colonies, due to high OCT4 and NANOG expression, with knock-down of these genes leading to a genotype-specific decrease in colony numbers. Moreover, our analysis revealed increased PD-L1 surface expression in malignant monocytes from +9p patients, while analysis of the T cell compartment unveiled elevated levels of exhausted cytotoxic T cells. Overall, here we identify a distinct novel subgroup of MPN patients, who feature a synergistic interplay between +9p and JAK2V617F that shapes immune escape characteristics and increased stemness in CD34+ cells.
  • Alternative platelet differentiation pathways initiated by nonhierarchically related hematopoietic stem cells
    Joana Carrelha, Stefania Mazzi, Axel Winroth, Michael Hagemann-Jensen, Christoph Ziegenhain, Kari Högstrand, Masafumi Seki, Margs S. Brennan, Madeleine Lehander, Bishan Wu, Yiran Meng, Ellen Markljung, Ruggiero Norfo, Hisashi Ishida, Karin Belander Strålin, Francesca Grasso, Christina Simoglou Karali, Affaf Aliouat, Amy Hillen, Edwin Chari, Kimberly Siletti, Supat Thongjuea, Adam J. Mead, Sten Linnarsson, Claus Nerlov, Rickard Sandberg, Tetsuichi Yoshizato, Petter S. Woll, Sten Eirik W. Jacobsen
    Nature Immunology, 2024
  • Perivascular niche cells sense thrombocytopenia and activate hematopoietic stem cells in an IL-1 dependent manner
    Tiago C. Luis, Nikolaos Barkas, Joana Carrelha, Alice Giustacchini, Stefania Mazzi, Ruggiero Norfo, Bishan Wu, Affaf Aliouat, Jose A. Guerrero, Alba Rodriguez-Meira, Tiphaine Bouriez-Jones, Iain C. Macaulay, Maria Jasztal, Guangheng Zhu, Heyu Ni, Matthew J. Robson, Randy D. Blakely, Adam J. Mead, Claus Nerlov, Cedric Ghevaert, Sten Eirik W. Jacobsen
    Nature Communications, 2023
  • Loss of endothelial membrane KIT ligand affects systemic KIT ligand levels but not bone marrow hematopoietic stem cells
    Sahoko Matsuoka, Raffaella Facchini, Tiago C. Luis, Joana Carrelha, Petter S. Woll, Takuo Mizukami, Bishan Wu, Hanane Boukarabila, Mario Buono, Ruggiero Norfo, Fumio Arai, Toshio Suda, Adam J. Mead, Claus Nerlov, Sten Eirik W. Jacobsen
    Blood, 2023
  • Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution
    Alba Rodriguez-Meira, Ruggiero Norfo, Sean Wen, Agathe L. Chédeville, Haseeb Rahman, Jennifer O’Sullivan, Guanlin Wang, Eleni Louka, Warren W. Kretzschmar, Aimee Paterson, Charlotte Brierley, Jean-Edouard Martin, Caroline Demeule, Matthew Bashton, Nikolaos Sousos, Daniela Moralli, Lamia Subha Meem, Joana Carrelha, Bishan Wu, Angela Hamblin, Helene Guermouche, Florence Pasquier, Christophe Marzac, François Girodon, William Vainchenker, Mark Drummond, Claire Harrison, J. Ross Chapman, Isabelle Plo, Sten Eirik W. Jacobsen, Bethan Psaila, Supat Thongjuea, Iléana Antony-Debré, Adam J. Mead
    Nature Genetics, 2023
  • Editorial: The Bone Marrow Niche in Normal and Malignant Haematopoiesis
    Michela Colombo, Ruggiero Norfo, Giada Bianchi, Aldo M. Roccaro
    Frontiers in Cell and Developmental Biology, 2022
  • Heterogeneous disease-propagating stem cells in juvenile myelomonocytic leukemia
    Eleni Louka, Benjamin Povinelli, Alba Rodriguez-Meira, Gemma Buck, Wei Xiong Wen, Guanlin Wang, Nikolaos Sousos, Neil Ashley, Angela Hamblin, Christopher A.G. Booth, Anindita Roy, Natalina Elliott, Deena Iskander, Josu de la Fuente, Nicholas Fordham, Sorcha O’Byrne, Sarah Inglott, Ruggiero Norfo, Mariolina Salio, Supat Thongjuea, Anupama Rao, Irene Roberts, Adam J. Mead
    Journal of Experimental Medicine, 2021
  • Rapid emergence of chronic lymphocytic leukemia during JAK2 inhibitor therapy in a patient with myelofibrosis
    Nikolaos Sousos, Gemma Buck, Alba Rodriguez‐Meira, Ruggiero Norfo, Angela Hamblin, Francesco Pezzella, Jennifer Davies, Philip Hublitz, Bethan Psaila, Adam J. Mead
    Hemasphere, 2020
  • Cell-intrinsic depletion of Aml1-ETO-expressing pre-leukemic hematopoietic stem cells by K-Ras activating mutation
    Cristina Di Genua, Ruggiero Norfo, Alba Rodriguez-Meira, Wei Xiong Wen, Roy Drissen, Christopher A.G. Booth, Benjamin Povinelli, Emmanouela Repapi, Nicki Gray, Joana Carrelha, Laura M. Kettyle, Lauren Jamieson, Wen Hao Neo, Supat Thongjuea, Claus Nerlov, Adam J. Mead
    Haematologica, 2019
  • Hierarchically related lineage-restricted fates of multipotent haematopoietic stem cells
    Joana Carrelha, Yiran Meng, Laura M. Kettyle, Tiago C. Luis, Ruggiero Norfo, Verónica Alcolea, Hanane Boukarabila, Francesca Grasso, Adriana Gambardella, Amit Grover, Kari Högstrand, Allegra M. Lord, Alejandra Sanjuan-Pla, Petter S. Woll, Claus Nerlov, Sten Eirik W. Jacobsen
    Nature, 2018
  • Involvement of MAF/SPP1 axis in the development of bone marrow fibrosis in PMF patients
    , S Ruberti, E Bianchi, P Guglielmelli, S Rontauroli, G Barbieri, L Tavernari, T Fanelli, R Norfo, V Pennucci, G Corbizi Fattori, C Mannarelli, N Bartalucci, B Mora, L Elli, M A Avanzini, C Rossi, S Salmoiraghi, R Zini, S Salati, Z Prudente, V Rosti, F Passamonti, A Rambaldi, S Ferrari, E Tagliafico, A M Vannucchi, R Manfredini
    Leukemia, 2018
  • Single-cell transcriptomics uncovers distinct molecular signatures of stem cells in chronic myeloid leukemia
    Alice Giustacchini, Supat Thongjuea, Nikolaos Barkas, Petter S Woll, Benjamin J Povinelli, Christopher A G Booth, Paul Sopp, Ruggiero Norfo, Alba Rodriguez-Meira, Neil Ashley, Lauren Jamieson, Paresh Vyas, Kristina Anderson, Åsa Segerstolpe, Hong Qian, Ulla Olsson-Strömberg, Satu Mustjoki, Rickard Sandberg, Sten Eirik W Jacobsen, Adam J Mead
    Nature Medicine, 2017
  • miR-494-3p overexpression promotes megakaryocytopoiesis in primary myelofibrosis hematopoietic stem/progenitor cells by targeting SOCS6
    Sebastiano Rontauroli, Ruggiero Norfo, Valentina Pennucci, Roberta Zini, Samantha Ruberti, Elisa Bianchi, Simona Salati, Zelia Prudente, Chiara Rossi, Vittorio Rosti, Paola Guglielmelli, Giovanni Barosi, Alessandro Vannucchi, Enrico Tagliafico, Rossella Manfredini
    Oncotarget, 2017
  • MiR-382-5p Controls Hematopoietic Stem Cell Differentiation Through the Downregulation of MXD1
    Roberta Zini, Chiara Rossi, Ruggiero Norfo, Valentina Pennucci, Greta Barbieri, Samantha Ruberti, Sebastiano Rontauroli, Simona Salati, Elisa Bianchi, Rossella Manfredini
    Stem Cells and Development, 2016
  • Integrative analysis of copy number and gene expression data suggests novel pathogenetic mechanisms in primary myelofibrosis
    Simona Salati, Roberta Zini, Simona Nuzzo, Paola Guglielmelli, Valentina Pennucci, Zelia Prudente, Samantha Ruberti, Sebastiano Rontauroli, Ruggiero Norfo, Elisa Bianchi, Costanza Bogani, Giada Rotunno, Tiziana Fanelli, Carmela Mannarelli, Vittorio Rosti, Silvia Salmoiraghi, Daniela Pietra, Sergio Ferrari, Giovanni Barosi, Alessandro Rambaldi, Mario Cazzola, Silvio Bicciato, Enrico Tagliafico, Alessandro M. Vannucchi, Rossella Manfredini, and
    International Journal of Cancer, 2016
  • Genomic landscape of megakaryopoiesis and platelet function defects
    Elisa Bianchi, Ruggiero Norfo, Valentina Pennucci, Roberta Zini, Rossella Manfredini
    Blood, 2016
  • MYB controls erythroid versus megakaryocyte lineage fate decision through the miR-486-3p-mediated downregulation of MAF
    E Bianchi, J Bulgarelli, S Ruberti, S Rontauroli, G Sacchi, R Norfo, V Pennucci, R Zini, S Salati, Z Prudente, S Ferrari, R Manfredini
    Cell Death and Differentiation, 2015
  • Abnormal expression patterns of WT1-as, MEG3 and ANRIL long non-coding RNAs in CD34+ cells from patients with primary myelofibrosis and their clinical correlations
    Valentina Pennucci, Roberta Zini, Ruggiero Norfo, Paola Guglielmelli, Elisa Bianchi, Simona Salati, Giorgia Sacchi, Zelia Prudente, Elena Tenedini, Samantha Ruberti, Chiara Paoli, Tiziana Fanelli, Carmela Mannarelli, Enrico Tagliafico, Sergio Ferrari, Alessandro M. Vannucchi, Rossella Manfredini, and
    Leukemia and Lymphoma, 2015
  • miRNA-mRNA integrative analysis in primary myelofibrosis CD34+cells: Role of miR-155/JARID2 axis in abnormal megakaryopoiesis
    Ruggiero Norfo, Roberta Zini, Valentina Pennucci, Elisa Bianchi, Simona Salati, Paola Guglielmelli, Costanza Bogani, Tiziana Fanelli, Carmela Mannarelli, Vittorio Rosti, Daniela Pietra, Silvia Salmoiraghi, Andrea Bisognin, Samantha Ruberti, Sebastiano Rontauroli, Giorgia Sacchi, Zelia Prudente, Giovanni Barosi, Mario Cazzola, Alessandro Rambaldi, Stefania Bortoluzzi, Sergio Ferrari, Enrico Tagliafico, Alessandro M. Vannucchi, Rossella Manfredini
    Blood, 2014
  • Co-Culture of Hematopoietic Stem/Progenitor Cells with Human Osteblasts Favours Mono/Macrophage Differentiation at the Expense of the Erythroid Lineage
    Simona Salati, Gina Lisignoli, Cristina Manferdini, Valentina Pennucci, Roberta Zini, Elisa Bianchi, Ruggiero Norfo, Andrea Facchini, Sergio Ferrari, Rossella Manfredini
    Plos One, 2013
  • Characterization and discovery of novel miRNAs and moRNAs in JAK2V617F-mutated SET2 cells
    Stefania Bortoluzzi, Andrea Bisognin, Marta Biasiolo, Paola Guglielmelli, Flavia Biamonte, Ruggiero Norfo, Rossella Manfredini, Alessandro M. Vannucchi
    Blood, 2012
  • Valproic acid triggers erythro/megakaryocyte lineage decision through induction of GFI1B and MLLT3 expression
    Roberta Zini, Ruggiero Norfo, Francesco Ferrari, Elisa Bianchi, Simona Salati, Valentina Pennucci, Giorgia Sacchi, Chiara Carboni, Giovanni Battista Ceccherelli, Enrico Tagliafico, Sergio Ferrari, Rossella Manfredini
    Experimental Hematology, 2012
  • c-myb supports erythropoiesis through the transactivation of KLF1 and LMO2 expression
    Elisa Bianchi, Roberta Zini, Simona Salati, Elena Tenedini, Ruggiero Norfo, Enrico Tagliafico, Rossella Manfredini, Sergio Ferrari
    Blood, 2010