Shwachman–Bodian–Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation fromC/EBPαandC/EBPβmRNAs

Abstract excerpt

Mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene cause Shwachman-Diamond Syndrome (SDS), a rare congenital disease characterized by bone marrow failure with neutropenia, exocrine pancreatic dysfunction and skeletal abnormalities. The SBDS protein is important for ribosome maturation and therefore SDS belongs to the ribosomopathies. It is unknown, however, if loss of SBDS functionality affects the...

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