Article
Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.
FEBS open bio - 1 Jul 2022
Hiregange Disha-Gajanan, Rivalta Andre, Yonath Ada, Zimmerman Ella, Bashan Anat, Yonath Hagith
Abstract excerpt
Ribosomes, the cellular organelles translating the genetic code to proteins, are assemblies of RNA chains and many proteins (RPs) arranged in precise fine-tuned interwoven structures. Mutated ribosomal genes cause ribosomopathies, including Diamond Blackfan anemia (DBA, a rare heterogeneous red-cell aplasia connected to ribosome malfunction) or failed biogenesis. Combined bioinformatical, structural, and...
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