Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

Defects in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often associated with physical abnormalities. Other bone marrow failure syndromes have been attributed to defects in ribosomal components but the link between erythropoiesis and the ribosome remains...

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Main Authors:	Aspesi, Anna, Pavesi, Elisa, Robotti, Elisa, Crescitelli, Rossella, Boria, Ilenia, Avondo, Federica, Moniz, Hélène, Da Costa, Lydie, Mohandas, Narla, Roncaglia, Paola, Ramenghi, Ugo, Ronchi, Antonella, Gustincich, Stefano, Merlin, Simone, Marengo, Emilio, Ellis, Steven R., Follenzi, Antonia, Santoro, Claudio, Dianzani, Irma
Format:	Online
Language:	English
Published:	Elsevier/North-Holland 2014
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4058751/

id	pubmed-4058751
recordtype	oai_dc
spelling	pubmed-40587512014-07-25 Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia Aspesi, Anna Pavesi, Elisa Robotti, Elisa Crescitelli, Rossella Boria, Ilenia Avondo, Federica Moniz, Hélène Da Costa, Lydie Mohandas, Narla Roncaglia, Paola Ramenghi, Ugo Ronchi, Antonella Gustincich, Stefano Merlin, Simone Marengo, Emilio Ellis, Steven R. Follenzi, Antonia Santoro, Claudio Dianzani, Irma Short Communication Defects in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often associated with physical abnormalities. Other bone marrow failure syndromes have been attributed to defects in ribosomal components but the link between erythropoiesis and the ribosome remains to be fully defined. Several lines of evidence suggest that defects in ribosome synthesis lead to “ribosomal stress” with p53 activation and either cell cycle arrest or induction of apoptosis. Pathways independent of p53 have also been proposed to play a role in DBA pathogenesis. Elsevier/North-Holland 2014-07-25 /pmc/articles/PMC4058751/ /pubmed/24835311 http://dx.doi.org/10.1016/j.gene.2014.04.077 Text en © 2014 The Authors http://creativecommons.org/licenses/by/3.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/3.0/).
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Aspesi, Anna Pavesi, Elisa Robotti, Elisa Crescitelli, Rossella Boria, Ilenia Avondo, Federica Moniz, Hélène Da Costa, Lydie Mohandas, Narla Roncaglia, Paola Ramenghi, Ugo Ronchi, Antonella Gustincich, Stefano Merlin, Simone Marengo, Emilio Ellis, Steven R. Follenzi, Antonia Santoro, Claudio Dianzani, Irma
spellingShingle	Aspesi, Anna Pavesi, Elisa Robotti, Elisa Crescitelli, Rossella Boria, Ilenia Avondo, Federica Moniz, Hélène Da Costa, Lydie Mohandas, Narla Roncaglia, Paola Ramenghi, Ugo Ronchi, Antonella Gustincich, Stefano Merlin, Simone Marengo, Emilio Ellis, Steven R. Follenzi, Antonia Santoro, Claudio Dianzani, Irma Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia
author_facet	Aspesi, Anna Pavesi, Elisa Robotti, Elisa Crescitelli, Rossella Boria, Ilenia Avondo, Federica Moniz, Hélène Da Costa, Lydie Mohandas, Narla Roncaglia, Paola Ramenghi, Ugo Ronchi, Antonella Gustincich, Stefano Merlin, Simone Marengo, Emilio Ellis, Steven R. Follenzi, Antonia Santoro, Claudio Dianzani, Irma
author_sort	Aspesi, Anna
title	Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia
title_short	Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia
title_full	Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia
title_fullStr	Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia
title_full_unstemmed	Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia
title_sort	dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for diamond-blackfan anemia
description	Defects in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often associated with physical abnormalities. Other bone marrow failure syndromes have been attributed to defects in ribosomal components but the link between erythropoiesis and the ribosome remains to be fully defined. Several lines of evidence suggest that defects in ribosome synthesis lead to “ribosomal stress” with p53 activation and either cell cycle arrest or induction of apoptosis. Pathways independent of p53 have also been proposed to play a role in DBA pathogenesis.
publisher	Elsevier/North-Holland
publishDate	2014
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4058751/
_version_	1612101807018868736

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

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