1. Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells. Cipolli M, Boni C, Penzo M, Villa I, Bolamperti S, Baldisseri E, Frattini A, Porta G, Api M, Selicato N, Roccia P, Pollutri D, Marinelli Busilacchi E, Poloni A, Caporelli N, D'Amico G, Pegoraro A, Cesaro S, Oyarbide U, Vella A, Lippi G, Corey SJ, Valli R, Polini A, Bezzerri V. Br J Haematol. 2024 Jan;204(1):292-305. doi: 10.1111/bjh.19134. 
   
   
2. Growth Charts for Shwachman-Diamond Syndrome at Ages 0 to 18 Years. Pegoraro A, Bezzerri V, Tridello G, Brignole C, Lucca F, Pintani E, Danesino C, Cesaro S, Fioredda F, Cipolli M. Cancers (Basel). 2024 Apr 5;16(7):1420. doi: 10.3390/cancers16071420.
   
   
3. Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
   Grünert SC, Gautschi M, Baker J, Boyer M, Burlina A, Casswall T, Corpeleijn W, Çıki K, Cotter M, Crushell E, Derks TGJ, Haas D, Kilavuz S, Kingma SDK, Korman SH, Kozek A, de Laet C, Mundy H, Nassogne MC, Quintero V, Rossi A, Spenger J, Spiegel R, Stephenne X, Stojkov D, Tal G, Veiga-da Cunha M, Wortmann SB.Mol Genet Metab. 2024 Jun;142(2):108486. doi: 10.1016/j.ymgme.2024.108486. Epub 2024 Apr 27.PMID: 38733639
   
   
4. Rates of severe neutropenia and infection risk in patients treated with deferiprone: 28 years of data. Badawy SM, Palmblad J, Tricta F, Toiber Temin N, Fradette C, Lin L, Rozova A, Sheth S. Blood Adv. 2024 Apr 19:bloodadvances.2023012316. doi: 10.1182/bloodadvances.2023012316. Online ahead of print. PMID: 38640437
   
   
5. Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel. Lital Yeshareem, Joanne Yacobovich, Asaf Lebel, Sharon Noy-Lotan, Orly Dgany, Tanya Krasnov, Galit Berger Pinto, Nino Oniashvili, Jacques Mardoukh, Bella Bielorai, Ruth Laor, Noa Mandel-Shorer, Ayelet Ben Barak, Carina Levin, Mahdi Asleh, Hagit Miskin, Shoshana Revel-Vilk, Dror Levin, Marganit Benish, Tsila Zuckerman, Ofir Wolach, Idit Pazgal, Dafna Brik Simon, Oded Gilad, Asaf David Yanir, Tracie Alison Goldberg, Shai Izraeli, Hannah Tamary, Orna Steinberg-Shemer. Eur J Haematol . 2024 Aug;113(2):146-162. doi: 10.1111/ejh.14197.
   
   
6. Cryo-EM reconstruction of the human 40S ribosomal subunit at 2.15 Å resolution Simone Pellegrino, Kyle C Dent, Tobias Spikes, Alan J Warren
   Nucleic Acids Res. 2023 May 8; 51(8): 4043–4054. doi: 10.1093/nar/gkad194
   
   
7. A congenital CSF3R mutation in chronic neutropenia reveals a vital role for a cytokine receptor extracellular hinge motif in the response to granulocyte colony-stimulating factor. Jacqueline Feyen, Martijn P. T. Ernst, Vincent H. J. van der Velden, Peter J. M. Valk, Lianne Broeders, Ivo P. Touw, Marc H. G. P. Raaijmakers. Pediatr Blood Cancer. 2023 Apr;70(4):e30039. doi: 10.1002/pbc.30039.
   
   
8. Truncated CSF3 receptors induce pro‐inflammatory responses in severe congenital neutropenia. Patricia A Olofsen, Dennis A Bosch, Hans W J de Looper, Paulina M H van Strien, Remco M Hoogenboezem, Onno Roovers, Vincent H J van der Velden, Eric M J Bindels, Emma M De Pater, Ivo P Touw. Br J Haematol
   
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9. Novel Translational Read-through-Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome. Bezzerri V, Lentini L, Api M, Busilacchi EM, Cavalieri V, Pomilio A, Diomede F, Pegoraro A, Cesaro S, Poloni A, Pace A, Trubiani O, Lippi G, Pibiri I, Cipolli M.  Biomedicines. 2022 Apr 12;10(4):886. doi: 10.3390/biomedicines10040886. 
   
   
10. Myeloid cells promote interferon signaling-associated deterioration of the hematopoietic system. Jacqueline Feyen, Zhen Ping, Lanpeng Chen, Claire van Dijk, Tim van Tienhoven, Paulette van Strien, Remco Hoogenboezem, Michiel Wevers, Mathijs Sanders, Ivo Touw, Marc Raaijmakers. Nat Commun
    

    . 2022 Dec 10;13(1):7657. doi: 10.1038/s41467-022-35318-x.
    
    
11. Mutation in the TACI gene and autoimmune neutropenia: A case report.  Bergman P, Broliden PA, Ratcliffe P, Lourda M, Flesch B, Höglund P, Palmblad J.  Am J Hematol. 2022 Jun 1;97(6):E207-E210. doi: 10.1002/ajh.26532.  
    
    
12. Perturbed NK-cell homeostasis associated with disease severity in chronic neutropenia. Sohlberg E, Pfefferle A, Heggernes Ask E, Tschan-Plessl A, Jacobs B, Netskar H, Lorenz S, Kanaya M, Kosugi-Kanaya M, Meinke S, Mörtberg A, Höglund P, Sundin M, Carlsson G, Palmblad J, Malmberg KJ. . Blood. 2022 Feb 3;139(5):704-716.PMID: 34699594
    
    
13. Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features. McCarthy P, Cotter M, Smith OP.Br J Haematol. 2022 Feb;196(3):e39-e42. doi: 10.1111/bjh.17853. Epub 2021 Sep 22.PMID: 34549814
    
    
14. eIF6 rebinding dynamically couples ribosome maturation and translation
    Pekka Jaako, Alexandre Faille, Shengjiang Tan, Chi C. Wong, Norberto Escudero-Urquijo, Pablo Castro-Hartmann, Penny Wright, Christine Hilcenko, David J. Adams, Alan J. Warren. bioRxiv 2021.09.06.459071; doi: https://doi.org/10.1101/2021.09.06.459071
    
    
15. A zebrafish model for HAX1-associated congenital neutropenia. Doll L, Aghaallaei N, Dick AM, Welte K, Skokowa J, Bajoghli B. Haematologica. 2021 May 1;106(5):1311-1320. doi: 10.3324/haematol.2019.240200. PMID: 32327498; PMCID: PMC8094079.
    
    
16. PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations. Olofsen PA, Bosch DA, Roovers O. Blood Adv. 2021;5(3):775-786. doi:10.1182/bloodadvances.2020003214
    
    
17. NAMPT/SIRT2-mediated inhibition of the p53-p21 signaling pathway is indispensable for maintenance and hematopoietic differentiation of human iPS cells. Xu, Y., Nasri, M., Dannenmann, B., Mir, P., Zahabi, A., Welte, K., Morishima, T., & Skokowa, J. (2021). Stem cell research & therapy, 12(1), 112. https://doi.org/10.1186/s13287-021-02144-9
    
    
18. Secondary CNL after SAA reveals insights in leukemic transformation of bone marrow failure syndromes. Schmied, L., Olofsen, P. A., Lundberg, P., Tzankov, A., Kleber, M., Halter, J., Uhr, M., Valk, P., Touw, I. P., Passweg, J., & Drexler, B. (2020). Blood advances, 4(21), 5540–5546. https://doi.org/10.1182/bloodadvances.2020001541
    
    
19. RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia. Olofsen, P. A., & Touw, I. P. (2020). Molecules and cells, 43(2), 139–144. https://doi.org/10.14348/molcells.2020.0010
    
    
20. CRISPR/Cas9 Genome Editing of Human-Induced Pluripotent Stem Cells Followed by Granulocytic Differentiation. Dannenmann, B., Nasri, M., Welte, K., & Skokowa, J. (2020). Methods in molecular biology (Clifton, N.J.), 2115, 471–483. https://doi.org/10.1007/978-1-0716-0290-4_27
    
    
21. Modeling severe congenital neutropenia in induced pluripotent stem cells. Olofsen PA, Touw IP. In: Birbrair A, ed. Recent Advances in iPSC Disease Modeling, vol. 1. Chapter 5. Waltham, MA: Academic Press; 2020:85-101
    
    
22. Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study
    Rotulo, G.A., Plat, G., Beaupain, B., Blanche, S., Moushous, D., Sicre de Fontbrune, F., Leblanc, T., Renard, C., Barlogis, V., Vigue, M.-G., Freycon, C., Piguet, C., Pasquet, M., Fieschi, C., Abou-Chahla, W., Gandemer, V., Rialland, F., Millot, F., Marie-Cardine, A., Paillard, C., Levy, P., Aladjidi, N., Biosse-Duplan, M., Bellanné-Chantelot, C., Donadieu, J. and (2021), Br J Haematol. https://doi.org/10.1111/bjh.17695
    
    
23. Malignant Transformation Involving CXXC4 Mutations Identified in a Leukemic Progression Model of Severe Congenital Neutropenia.
    Patricia A. Olofsen, Szabolcs Fatrai, Paulina M.H. van Strien, Julia C. Obenauer, Hans W.J. de Looper, Remco M. Hoogenboezem, Claudia A.J. Erpelinck-Verschueren, Michael P.W.M. Vermeulen, Onno Roovers, Torsten Haferlach, Joop H. Jansen, Mehrnaz Ghazvini, Eric M.J. Bindels, Rebekka K. Schneider, Emma M. de Pater, and Ivo P. Touw, Cell Reports Medicine Volume 1, Issue 5, 100074, August 25, 2020. https://doi.org/10.1016/j.xcrm.2020.100074
    
    
24. Complement and tissue factor-enriched neutrophil extracellular traps are key drivers in COVID-19 immunothrombosis
    Panagiotis Skendros, Alexandros Mitsios, Akrivi Chrysanthopoulou, Dimitrios C Mastellos, Simeon Metallidis, Petros Rafailidis, Maria Ntinopoulou, Eleni Sertaridou, Victoria Tsironidou, Christina Tsigalou, Maria G Tektonidou, Theocharis Konstantinidis, Charalampos Papagoras, Ioannis Mitroulis, Georgios Germanidis, John D Lambris, Konstantinos Ritis, J Clin Invest. 2020 Aug 6;141374. doi: 10.1172/JCI141374. Online ahead of print. (PubMed)
    
    
25. Circumventing Mutation to Nix Neutropenia
    Skokowa J. N Engl J Med. 2021 May 20;384(20):1956-1958. doi: 10.1056/NEJMcibr2102952. PMID: 34010536

Under Review

Structure of the AAA-ATPase Drg1 during extraction of Rlp24 from pre-60S particles. Prattes M, Grishkovskaya I, Hodirnau V-V, Hetzmannseder C, Zisser G, Sailer C, Vasileios Kargas, Loibl M, Gerhalter M, Kofler L, Warren AJ, Stengel F, Haselbach D and Bergler H. Under review, Nature Structural and Molecular Biology