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Your search keyword '"Bezzerri, Valentino"' showing total 18 results
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18 results on '"Bezzerri, Valentino"'

1. SARS-CoV-2 viral entry and replication is impaired in Cystic Fibrosis airways due to ACE2 downregulation

Author

Bezzerri, Valentino, Gentili, Valentina, Api, Martina, Finotti, Alessia, Papi, Chiara, Tamanini, Anna, Boni, Christian, Baldisseri, Elena, Olioso, Debora, Duca, Martina, Tedesco, Erika, Leo, Sara, Borgatti, Monica, Volpi, Sonia, Pinton, Paolo, Cabrini, Giulio, Gambari, Roberto, Blasi, Francesco, Lippi, Giuseppe, Rimessi, Alessandro, Rizzo, Roberta, and Cipolli, Marco

Published
2023
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2. COVID‐19 disease in patients with chronic neutropenia: The experience from the European Network for Innovative Diagnosis and Treatment of Chronic Neutropenias

Author

Spanoudakis, Michail, primary, Yilmaz Karapinar, Deniz, additional, Dale, David, additional, Bolyard, Audrey Anna, additional, Tran, Emily, additional, Roganovic, Jelena, additional, Bartels, Marije, additional, Kapor, Suncica, additional, Guardo, Daniela, additional, Yacobovich, Joanne, additional, Nilsson, Christer, additional, Bezzerri, Valentino, additional, Cipolli, Marco, additional, Pegoraro, Anna, additional, Aleksov, Emil, additional, Guenova, Margarita, additional, Dufour, Carlo, additional, Fioredda, Francesca, additional, Papadaki, Helen A., additional, and Palmblad, Jan, additional

Published
2024
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3. Growth Charts for Shwachman–Diamond Syndrome at Ages 0 to 18 Years.

Author

Pegoraro, Anna, Bezzerri, Valentino, Tridello, Gloria, Brignole, Cecilia, Lucca, Francesca, Pintani, Emily, Danesino, Cesare, Cesaro, Simone, Fioredda, Francesca, and Cipolli, Marco

Subjects
*BODY mass index, *RESEARCH funding, *BODY weight, *HUMAN growth, *DESCRIPTIVE statistics, *STATURE, *BONE marrow diseases, *FAILURE to thrive syndrome, *SHWACHMAN-Diamond Syndrome, *ADOLESCENCE, *CHILDREN
Abstract

Simple Summary: In this study, we drew up the growth charts of Italian patients with Shwachman–Diamond syndrome (SDS) at ages 0 to 18 years. We found that the 50th and 3rd percentiles of weight and height of the pediatric general population correspond to the 97th and 50th percentiles of patients with SDS, respectively. The median age at menarche in females with SDS was comparable with that of the general population. The percentage increment in weight of subjects aged 14–18 years was higher in patients with SDS than in the general population. This study provides insight into the potential usefulness of SDS-specific growth chart data as a resource for clinicians working with patients with SDS. Shwachman–Diamond syndrome (SDS) is one of the most common inherited bone marrow failure syndromes. SDS is characterized by hypocellular bone marrow, with a severe impairment of the myeloid lineage, resulting in neutropenia, thrombocytopenia, and, more rarely, anemia. Almost 15% of patients with SDS develop myelodysplastic syndrome or acute myeloid leukemia as early as childhood or young adulthood. Exocrine pancreatic insufficiency is another common feature of SDS. Almost all patients with SDS show failure to thrive, which is associated with skeletal abnormalities due to defective ossification. Considering these observations, it remains unfeasible to use the common growth charts already available for the general population. To address this issue, we report how we drew up growth charts of patients with SDS aged 0 to 18 years. We analyzed height, weight, and body max index (BMI) in 121 Italian patients with SDS. Results indicated that the 50th and 3rd percentiles of weight and height of the pediatric general population correspond to the 97th and 50th percentiles of patients with SDS aged 0–18 years, respectively. In addition, the percentage increment in weight of subjects aged 14–18 years was higher in patients with SDS than in the general population. SDS-specific growth charts, such as those described here, afford a new tool, which is potentially useful for both clinical and research purposes in SDS. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman–Diamond syndrome cells

Author

Cipolli, Marco, primary, Boni, Christian, additional, Penzo, Marianna, additional, Villa, Isabella, additional, Bolamperti, Simona, additional, Baldisseri, Elena, additional, Frattini, Annalisa, additional, Porta, Giovanni, additional, Api, Martina, additional, Selicato, Nora, additional, Roccia, Pamela, additional, Pollutri, Daniela, additional, Marinelli Busilacchi, Elena, additional, Poloni, Antonella, additional, Caporelli, Nicole, additional, D'Amico, Giovanna, additional, Pegoraro, Anna, additional, Cesaro, Simone, additional, Oyarbide, Usua, additional, Vella, Antonio, additional, Lippi, Giuseppe, additional, Corey, Seth J., additional, Valli, Roberto, additional, Polini, Alessandro, additional, and Bezzerri, Valentino, additional

Published
2023
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9. Immunogenicity and Safety of the BNT162b2 COVID-19 Vaccine in Patients with Cystic Fibrosis with or without Lung Transplantation

Author

Lucca, Francesca, primary, Bezzerri, Valentino, additional, Danese, Elisa, additional, Olioso, Debora, additional, Peserico, Denise, additional, Boni, Christian, additional, Cucchetto, Giulia, additional, Montagnana, Martina, additional, Tridello, Gloria, additional, Meneghelli, Ilaria, additional, Ros, Mirco, additional, Lippi, Giuseppe, additional, and Cipolli, Marco, additional

Published
2023
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10. Study of Angiogenic Potential and Oxidative Metabolism in Mesenchymal Stromal Cells Derived from Shwachman-Diamond Syndrome Patients

Author

Gervasoni, Clarissa, primary, Giussani, Alice Martina, additional, Bertola, Nadia, additional, Dander, Erica, additional, Biondi, Andrea, additional, Corti, Paola, additional, Farruggia, Piero, additional, Menna, Giuseppe, additional, Cipolli, Marco, additional, Bezzerri, Valentino, additional, Pegoraro, Anna, additional, Cesaro, Simone, additional, Dufour, Carlo, additional, Cappelli, Enrico, additional, Ravera, Silvia, additional, and D'Amico, Giovanna, additional

Published
2022
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12. Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome

Author

Bezzerri, Valentino, primary, Lentini, Laura, additional, Api, Martina, additional, Busilacchi, Elena Marinelli, additional, Cavalieri, Vincenzo, additional, Pomilio, Antonella, additional, Diomede, Francesca, additional, Pegoraro, Anna, additional, Cesaro, Simone, additional, Poloni, Antonella, additional, Pace, Andrea, additional, Trubiani, Oriana, additional, Lippi, Giuseppe, additional, Pibiri, Ivana, additional, and Cipolli, Marco, additional

Published
2022
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13. Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman–Diamond Syndrome Subjects

Author

Frattini, Annalisa, primary, Bolamperti, Simona, additional, Valli, Roberto, additional, Cipolli, Marco, additional, Pinto, Rita Maria, additional, Bergami, Elena, additional, Frau, Maria Rita, additional, Cesaro, Simone, additional, Signo, Michela, additional, Bezzerri, Valentino, additional, Porta, Giovanni, additional, Khan, Abdul Waheed, additional, Rubinacci, Alessandro, additional, and Villa, Isabella, additional

Published
2021
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14. ACE2 expression and localization are regulated by CFTR: implications beyond cystic fibrosis

Author

Bezzerri, Valentino, primary, Gentili, Valentina, additional, Api, Martina, additional, Finotti, Alessia, additional, Papi, Chiara, additional, Tamanini, Anna, additional, Olioso, Debora, additional, Duca, Martina, additional, Tedesco, Erika, additional, Leo, Sara, additional, Borgatti, Monica, additional, Volpi, Sonia, additional, Pinton, Paolo, additional, Cabrini, Giulio, additional, Gambari, Roberto, additional, Blasi, Francesco, additional, Lippi, Giuseppe, additional, Rimessi, Alessandro, additional, Rizzo, Roberta, additional, and Cipolli, Marco, additional

Published
2021
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15. Antioxidants As a Novel Treatment to Revert Impaired Angiogenic Potential Driven By Metabolic Alterations Observed in Shwachman-Diamond Syndrome Derived Mesenchymal Stromal Cells

Author

Gervasoni, Clarissa, Bertola, Nadia, Giussani, Alice Martina, Dander, Erica, Bezzerri, Valentino, Biondi, Andrea, Corti, Paola, Farruggia, Piero, Giagnuolo, Giovanna, Menna, Giuseppe, Pegoraro, Anna, Cesaro, Simone, Cipolli, Marco, Dufour, Carlo, Ravera, Silvia, and D'Amico, Giovanna

Abstract

IntroductionShwachman-Diamond Syndrome (SDS) is a rare bone marrow (BM) failure disorder. SDS BM biopsies show tortuous and collapsed vessels, highlighting angiogenic abnormalities. Our group previously demonstrated that SDS BM mesenchymal stromal cells (MSCs) have in vitroand in vivoimpaired angiogenic potential compared to healthy donors (HD)-MSCs.

Published
2023
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17. Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome

Author

Valentino Bezzerri, Laura Lentini, Martina Api, Elena Marinelli Busilacchi, Vincenzo Cavalieri, Antonella Pomilio, Francesca Diomede, Anna Pegoraro, Simone Cesaro, Antonella Poloni, Andrea Pace, Oriana Trubiani, Giuseppe Lippi, Ivana Pibiri, Marco Cipolli, Bezzerri, Valentino, Lentini, Laura, Api, Martina, Busilacchi, Elena Marinelli, Cavalieri, Vincenzo, Pomilio, Antonella, Diomede, Francesca, Pegoraro, Anna, Cesaro, Simone, Poloni, Antonella, Pace, Andrea, Trubiani, Oriana, Lippi, Giuseppe, Pibiri, Ivana, and Cipolli, Marco

Subjects
neutropenia, Medicine (miscellaneous), ataluren, bone marrow failure syndromes, Shwachman-Diamond Syndrome, General Biochemistry, Genetics and Molecular Biology
Abstract

Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia. Moreover, SDS patients have a high risk of developing myelodysplastic syndrome (MDS), which in turn increases the risk of acute myeloid leukemia (AML) from an early age. Most SDS patients are heterozygous for the c.183-184TA>CT (K62X) SBDS nonsense mutation. Fortunately, a plethora of translational read-through inducing drugs (TRIDs) have been developed and tested for several rare inherited diseases due to nonsense mutations so far. The authors previously demonstrated that ataluren (PTC124) can restore full-length SBDS protein expression in bone marrow stem cells isolated from SDS patients carrying the nonsense mutation K62X. In this study, the authors evaluated the effect of a panel of ataluren analogues in restoring SBDS protein resynthesis and function both in hematological and non-hematological SDS cells. Besides confirming that ataluren can efficiently induce SBDS protein re-expression in SDS cells, the authors found that another analogue, namely NV848, can restore full-length SBDS protein synthesis as well, showing very low toxicity in zebrafish. Furthermore, NV848 can improve myeloid differentiation in bone marrow hematopoietic progenitors, enhancing neutrophil maturation and reducing the number of dysplastic granulocytes in vitro. Therefore, these findings broaden the possibilities of developing novel therapeutic options in terms of nonsense mutation suppression for SDS. Eventually, this study may act as a proof of concept for the development of similar approaches for other IBMFS caused by nonsense mutations.

Published
2022

18. Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells.

Author

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, and Bezzerri V

Subjects
Humans, Shwachman-Diamond Syndrome, Tumor Suppressor Protein p53 genetics, Codon, Nonsense, Myelopoiesis, Neutrophils metabolism, Chemotaxis, Ribosomes metabolism, Lipomatosis genetics, Bone Marrow Diseases genetics, Bone Marrow Diseases therapy, Exocrine Pancreatic Insufficiency genetics
Abstract

Shwachman-Diamond syndrome (SDS) is characterized by neutropenia, exocrine pancreatic insufficiency and skeletal abnormalities. SDS bone marrow haematopoietic progenitors show increased apoptosis and impairment in granulocytic differentiation. Loss of Shwachman-Bodian-Diamond syndrome (SBDS) expression results in reduced eukaryotic 80S ribosome maturation. Biallelic mutations in the SBDS gene are found in ~90% of SDS patients, ~55% of whom carry the c.183-184TA>CT nonsense mutation. Several translational readthrough-inducing drugs aimed at suppressing nonsense mutations have been developed. One of these, ataluren, has received approval in Europe for the treatment of Duchenne muscular dystrophy. We previously showed that ataluren can restore full-length SBDS protein synthesis in SDS-derived bone marrow cells. Here, we extend our preclinical study to assess the functional restoration of SBDS capabilities in vitro and ex vivo. Ataluren improved 80S ribosome assembly and total protein synthesis in SDS-derived cells, restored myelopoiesis in myeloid progenitors, improved neutrophil chemotaxis in vitro and reduced neutrophil dysplastic markers ex vivo. Ataluren also restored full-length SBDS synthesis in primary osteoblasts, suggesting that its beneficial role may go beyond the myeloid compartment. Altogether, our results strengthened the rationale for a Phase I/II clinical trial of ataluren in SDS patients who harbour the nonsense mutation., (© 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.)

Published
2024
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