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SDS bone marrow haematopoietic progenitors show increased apoptosis and impairment in granulocytic differentiation. Loss of Shwachman\u2013Bodian\u2013Diamond syndrome (<jats:italic>SBDS<\/jats:italic>) expression results in reduced eukaryotic 80S ribosome maturation. Biallelic mutations in the <jats:italic>SBDS<\/jats:italic> gene are found in ~90% of SDS patients, ~55% of whom carry the c.183\u2010184TA&gt;CT nonsense mutation. Several translational readthrough\u2010inducing 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\u2010length SBDS protein synthesis in SDS\u2010derived 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\u2010derived cells, restored myelopoiesis in myeloid progenitors, improved neutrophil chemotaxis in vitro and reduced neutrophil dysplastic markers ex vivo. Ataluren also restored full\u2010length 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.<\/jats:p>","DOI":"10.1111\/bjh.19134","type":"journal-article","created":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T01:50:39Z","timestamp":1698198639000},"page":"292-305","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman\u2013Diamond syndrome cells"],"prefix":"10.1111","volume":"204","author":[{"given":"Marco","family":"Cipolli","sequence":"first","affiliation":[{"name":"Cystic Fibrosis Center Azienda Ospedaliera Universitaria Integrata  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Boni","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Center Azienda Ospedaliera 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