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

• Published in: International journal of molecular sciences Vol. 22; no. 24; p. 13331
• Main Authors: Frattini, Annalisa, Bolamperti, Simona, Valli, Roberto, Cipolli, Marco, Pinto, Rita Maria, Bergami, Elena, Frau, Maria Rita, Cesaro, Simone, Signo, Michela, Bezzerri, Valentino, Porta, Giovanni, Khan, Abdul Waheed, Rubinacci, Alessandro, Villa, Isabella
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 11.12.2021; MDPI
• Subjects: Biopsy; Calcification, Physiologic; Cells, Cultured; Chromosomes; Female; Gene expression; Humans; Male; Mineralization; Morphology; Mutation; Osteoblasts - metabolism; Osteoblasts - pathology; Patients; Proteins; Proteins - genetics; Proteins - metabolism; Shwachman-Diamond Syndrome - genetics; Shwachman-Diamond Syndrome - metabolism; Shwachman-Diamond Syndrome - pathology; Tumor Suppressor Protein p53 - genetics; Tumor Suppressor Protein p53 - metabolism; bone cells; ribosomopathies; mineralization; transcriptome; p53

Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities, caused by loss-of-function mutations in the SBDS gene, a factor involved in ribosome biogenesis. By analyzing osteoblasts from...