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How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies

by Giulia Venturi 1,2 and Lorenzo Montanaro 1,2,3,*
1
Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater Studiorum-University of Bologna, Via Massarenti 9, 40138 Bologna, Italy
2
Center for Applied Biomedical Research, Alma Mater Studiorum-University of Bologna, Via Massarenti 9, 40138 Bologna, Italy
3
Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, 40138 Bologna, Italy
*
Author to whom correspondence should be addressed.
Cells 2020, 9(10), 2300; https://doi.org/10.3390/cells9102300
Received: 14 September 2020 / Revised: 9 October 2020 / Accepted: 12 October 2020 / Published: 15 October 2020
(This article belongs to the Special Issue Ribosome Biogenesis in Health and Disease)
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. View Full-Text
Keywords: ribosome biogenesis; rare diseases; Diamond Blackfan anemia; X-linked dyskeratosis congenita; 5q− syndrome; Shwachman-Diamond syndrome; Treacher Collins syndrome; cartilage hair hypoplasia; cancer ribosome biogenesis; rare diseases; Diamond Blackfan anemia; X-linked dyskeratosis congenita; 5q− syndrome; Shwachman-Diamond syndrome; Treacher Collins syndrome; cartilage hair hypoplasia; cancer
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Venturi, G.; Montanaro, L. How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies. Cells 2020, 9, 2300.

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