A number of different defects in the process of ribosome production can lead to a diversified spectrum of disorders that are collectively identified as ribosomopathies. The specific factors involved may either play a role only in ribosome biogenesis or have additional extra-ribosomal functions, making it difficult to ascribe the pathogenesis of the disease specifically to an altered ribosome biogenesis, even if the latter is clearly affected. We reviewed the available literature in the field from this point of view with the aim of distinguishing, among ribosomopathies, the ones due to specific alterations in the process of ribosome production from those characterized by a multifactorial pathogenesis.

中文翻译：

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核糖体产生的改变如何导致或促成人类疾病：核糖体病的谱系


核糖体产生过程中的许多不同缺陷可导致多种疾病，统称为核糖体病。所涉及的特定因素可能仅在核糖体生物发生中发挥作用，或者具有额外的核糖体外功能，因此很难将疾病的发病机制专门归因于核糖体生物发生的改变，即使后者明显受到影响。我们从这个角度回顾了该领域的现有文献，目的是在核糖体病中区分由核糖体产生过程中的特定改变引起的疾病和以多因素发病机制为特征的疾病。