Ribosomopathies: human disorders of ribosome dysfunction.

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Epigenomic profiling of young and aged HSCs reveals concerted changes during aging that reinforce self-renewal (2014, background): “Intriguingly, defects in ribosome biogenesis have been linked to bone marrow failure syndromes associated with a risk of developing malignancies, such as Diamond-Blackfan anemia (Narla and Ebert, 2010).”
Ribosomal proteins: functions beyond the ribosome. (2015, background): “Later on, more mutations in other RP-encoding genes, including RPS7 (Gazda et al., 2008), RPS10 (Doherty et al., 2010), RPS15 (Gazda et al., 2008), RPS17 (Cmejla et al., 2007), RPS24 (Gazda et al., 2006; Campagnoli et al., 2008), RPS26 (Doherty et al., 2010), RPS27A (Gazda et al., 2008), RPS28 (Grip”
A census of human RNA-binding proteins (2014, background): “Loss-of-function of rRNA biogenesis factors and ribosomal proteins are generally embryonically lethal and only few diseases, classified as ribosomopathies, are known for these RBPs (Narla and Ebert, 2010; Ruggero and Pandolfi, 2003).”
The Nucleolus under Stress (2010, neutral): “Indeed, failure of a cell to properly regulate p53 activity following disruption of ribosome biogenesis (ribosomal stress) has been linked to human disorders such as Diamond Blackfan Anaemia and TCOF1 (Treacher Collins-Franceschetti syndrome 1) (reviewed in Narla and Ebert, 2010) .”