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Molecular mechanisms behind ribosomopathies Ribosomopathies are t issuespecific disorders that result from mutations in ribosomal proteins or ribosome biogenesis factors. Such disorders include Diamond-Blackfan anemia, isolated congenital asplenia, and Treacher Collins syndrome. Mills and Green review the underlying mechanisms of tissue-specific defects in these and related disorders. Because ribosomes are central to all cellular life, it is puzzling why mutations in components of the ribosome disproportionately affect certain tissues. The authors suggest that ribosome homeostasis is an overarching and simplifying principle that governs the sensitivity of specific cells and tissue types to mutation in components of the translational machinery. Science , this issue p. eaan2755
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Mills et al. (Thu,) studied this question.
www.synapsesocial.com/papers/69435deadbba659802253705 — DOI: https://doi.org/10.1126/science.aan2755
Eric W. Mills
Rachel Green
Science
Johns Hopkins University
Howard Hughes Medical Institute
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