[HTML][HTML] Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome

AJ Warren - Advances in biological regulation, 2018 - Elsevier
Mutations that target the ubiquitous process of ribosome assembly paradoxically cause
diverse tissue-specific disorders (ribosomopathies) that are often associated with an
increased risk of cancer. Ribosomes are the essential macromolecular machines that read
the genetic code in all cells in all kingdoms of life. Following pre-assembly in the nucleus,
precursors of the large 60S and small 40S ribosomal subunits are exported to the cytoplasm
where the final steps in maturation are completed. Here, I review the recent insights into the …