Elena Baldisseri

Azienda Ospedaliera Universitaria Integrata Verona

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Marco Cipolli

Cystic Fibrosis Research Foundation

Valentino Bezzerri

Azienda Ospedaliera Universitaria Integrata Verona

Giuseppe Lippi

University of Verona

Christian Boni

Azienda Ospedaliera Universitaria Integrata Verona

Seth J. Corey

Cleveland Clinic

Martina Api

Azienda Ospedaliero Universitaria Ospedali Riuniti

Giovanni Porta

University of Insubria

Antonio Vella

Azienda Ospedaliera Universitaria Integrata Verona

Giovanna D’Amico

Istituti di Ricovero e Cura a Carattere Scientifico

Anna Pegoraro

Azienda Ospedaliera Universitaria Integrata Verona

Cooperative Institutions

Azienda Ospedaliera Universitaria Integrata Verona

University of Verona

Cystic Fibrosis Research Foundation

University of Ferrara

Karolinska Institutet

Istituti di Ricovero e Cura a Carattere Scientifico

Azienda Ospedaliero Universitaria Ospedali Riuniti

University of Naples Federico II

Centre National de la Recherche Scientifique

University of Bologna

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TAp73 represses NF-κB–mediated recruitment of tumor-associated macrophages in breast cancer

Proceedings of the National Academy of Sciences (2021)

Johanna Wolfsberger Habib A. M. Sakil Leilei Zhou Niek van Bree Elena Baldisseri

Significance Breast cancer is one of the most prevalent cancers worldwide. Understanding this complex disease is therefore of great importance. Here, we report that loss of TAp73, a known tumor suppressor and member of the p53 protein family, leads to increased activation of the NF-κB pathway, secretion of the chemokine CCL2, and an increase in protumoral macrophage infiltration in human breast cancer. Both high levels of CCL2 and high macrophage infiltration are known to correlate with poor prognosis in breast cancer patients. This study identifies TAp73 as a regulator of macrophage recruitment and highlights a role for TAp73 in immune cell regulation in cancer.

Infiltration (HVAC)

10.1073/pnas.2017089118

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Citations (28)

In silico analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells

iScience (2023)

Karina Kleinfelder Virginia Lotti Adriana Eramo Felice Amato Stefania Lo Cicero

Mutation targeted therapy in cystic fibrosis (CF) is still not eligible for all CF subjects, especially for cases carrying rare variants such as the CFTR genotype W57G/A234D (c.169T>G/c.701C>A). We performed

Ivacaftor

10.1016/j.isci.2023.108180

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

British Journal of Haematology (2023)

Marco Cipolli Christian Boni Marianna Penzo Isabella Villa Simona Bolamperti

Summary 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.

Myelopoiesis

Nonsense mutation

Ex vivo

10.1111/bjh.19134

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

Nature Communications (2023)

Valentino Bezzerri Valentina Gentili Martina Api Alessia Finotti Chiara Papi

Abstract As an inherited disorder characterized by severe pulmonary disease, cystic fibrosis could be considered a comorbidity for coronavirus disease 2019. Instead, current clinical evidence seems to be heading in the opposite direction. To clarify whether host factors expressed by the Cystic Fibrosis epithelia may influence coronavirus disease 2019 progression, here we describe the expression of SARS-CoV-2 receptors in primary airway epithelial cells. We show that angiotensin converting enzyme 2 (ACE2) expression and localization are regulated by Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel. Consistently, our results indicate that dysfunctional CFTR channels alter susceptibility to SARS-CoV-2 infection, resulting in reduced viral entry and replication in Cystic Fibrosis cells. Depending on the pattern of ACE2 expression, the SARS-CoV-2 spike (S) protein induced high levels of Interleukin 6 in healthy donor-derived primary airway epithelial cells, but a very weak response in primary Cystic Fibrosis cells. Collectively, these data support that Cystic Fibrosis condition may be at least partially protecting from SARS-CoV-2 infection.

10.1038/s41467-023-35862-0

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Ataluren Treatment Improves Hematopoietic and Pancreatic Disorders in Patients with Shwachman-Diamond Syndrome

Research Square (Research Square) (2024)

Marco Cipolli Valentino Bezzerri Anna Pegoraro Anca Manuela Hristodor Genevieve M. Crane

Abstract Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutropenia, and a high risk of myeloid malignancy. Most patients with SDS harbor nonsense mutations in Shwachman-Bodian-Diamond syndrome gene (SBDS), which encodes a ribosome assembly factor. We investigated the translational read-through effect of ataluren in three patients with SDS. The primary and secondary endpoints were restoring SBDS protein levels in hematopoietic cells and improving myelopoiesis, respectively. SBDS synthesis increased in hematopoietic cells, whereas the bone marrow showed improved cellularity with the maturation of myeloid progenitors. The exocrine pancreatic function also improved. Thus, this clinical study strongly encourages the further clinical development of ataluren to treat SDS.

Exocrine pancreatic insufficiency

10.21203/rs.3.rs-5231941/v1

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