When ribosomes go bad: diseases of ribosome biogenesis.
Ribosomes are vital for cell growth and survival. Until recently, it was believed that mutations in ribosomes or ribosome biogenesis factors would be lethal, due to the essential nature of these complexes. However, in the last few decades, a number of diseases of ribosome biogenesis have been discovered. It remains a challenge in the field to elucidate the molecular mechanisms underlying them.
Freed
Emily F
EF
Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.
Bleichert
Franziska
F
Dutca
Laura M
LM
Baserga
Susan J
SJ
D004194:Disease / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*; D012322:RNA Precursors / Q000235:genetics; D012269:Ribosomal Proteins / Q000235:genetics; D012270:Ribosomes / Q000235:genetics* / Q000502:physiology*
D012322:RNA Precursors; D012269:Ribosomal Proteins