Literature DB >> 31376929

Ribosomopathies: Old Concepts, New Controversies.

Katherine I Farley-Barnes1, Lisa M Ogawa1, Susan J Baserga2.   

Abstract

Ribosomopathies are a diverse subset of diseases caused by reduced expression of, or mutations in, factors necessary for making ribosomes, the protein translation machinery in the cell. Despite the ubiquitous need for ribosomes in all cell types, ribosomopathies manifest with tissue-specific defects and sometimes increased cancer susceptibility, but few treatments target the underlying cause. By highlighting new research in the field, we review current hypotheses for the basis of this tissue specificity. Based on new work, we broaden our understanding of the role of ribosome biogenesis in diverse tissue types throughout embryonic development. We also pose the question of whether previously described human conditions such as aging can be at least partially attributed to defects in making ribosomes.
Copyright © 2019 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  aging; cancer; neurodegeneration; ribosome concentration hypothesis; ribosomopathy; specialized ribosome

Mesh:

Substances:

Year:  2019        PMID: 31376929      PMCID: PMC6852887          DOI: 10.1016/j.tig.2019.07.004

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


  136 in total

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Authors:  Michal Hetman; Maciej Pietrzak
Journal:  Trends Neurosci       Date:  2012-02-02       Impact factor: 13.837

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Review 4.  Ribosomopathies: There's strength in numbers.

Authors:  Eric W Mills; Rachel Green
Journal:  Science       Date:  2017-11-03       Impact factor: 47.728

5.  Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.

Authors:  Jean Donadieu; Odile Fenneteau; Blandine Beaupain; Sandrine Beaufils; Florence Bellanger; Nizar Mahlaoui; Anne Lambilliotte; Nathalie Aladjidi; Yves Bertrand; Valérie Mialou; Christine Perot; Gérard Michel; Fanny Fouyssac; Catherine Paillard; Virginie Gandemer; Patrick Boutard; Jacques Schmitz; Alain Morali; Thierry Leblanc; Christine Bellanné-Chantelot
Journal:  Haematologica       Date:  2012-04-04       Impact factor: 9.941

6.  The complexity of human ribosome biogenesis revealed by systematic nucleolar screening of Pre-rRNA processing factors.

Authors:  Lionel Tafforeau; Christiane Zorbas; Jean-Louis Langhendries; Sahra-Taylor Mullineux; Vassiliki Stamatopoulou; Romain Mullier; Ludivine Wacheul; Denis L J Lafontaine
Journal:  Mol Cell       Date:  2013-08-22       Impact factor: 17.970

7.  Ribosome dysfunction is an early event in Alzheimer's disease.

Authors:  Qunxing Ding; William R Markesbery; Qinghua Chen; Feng Li; Jeffrey N Keller
Journal:  J Neurosci       Date:  2005-10-05       Impact factor: 6.709

8.  Altered translation of GATA1 in Diamond-Blackfan anemia.

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Journal:  Nat Med       Date:  2014-06-22       Impact factor: 53.440

9.  Rps26 directs mRNA-specific translation by recognition of Kozak sequence elements.

Authors:  Max B Ferretti; Homa Ghalei; Ethan A Ward; Elizabeth L Potts; Katrin Karbstein
Journal:  Nat Struct Mol Biol       Date:  2017-07-31       Impact factor: 15.369

10.  Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.

Authors:  Blanche P Alter; Neelam Giri; Sharon A Savage; Philip S Rosenberg
Journal:  Haematologica       Date:  2017-10-19       Impact factor: 9.941

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  49 in total

1.  Fluoride exposure alters Ca2+ signaling and mitochondrial function in enamel cells.

Authors:  Francisco J Aulestia; Johnny Groeling; Guilherme H S Bomfim; Veronica Costiniti; Vinu Manikandan; Ariya Chaloemtoem; Axel R Concepcion; Yi Li; Larry E Wagner; Youssef Idaghdour; David I Yule; Rodrigo S Lacruz
Journal:  Sci Signal       Date:  2020-02-18       Impact factor: 8.192

2.  Tissue-Specific Ribosome Profiling in Drosophila.

Authors:  Xun Chen; Dion Dickman
Journal:  Methods Mol Biol       Date:  2021

Review 3.  G-Quadruplex Assembly by Ribosomal DNA: Emerging Roles in Disease Pathogenesis and Cancer Biology.

Authors:  Arindam Datta; Kevin J Pollock; Karen A Kormuth; Robert M Brosh
Journal:  Cytogenet Genome Res       Date:  2021-09-01       Impact factor: 1.941

4.  Nucleolar maturation of the human small subunit processome.

Authors:  Sameer Singh; Arnaud Vanden Broeck; Linamarie Miller; Malik Chaker-Margot; Sebastian Klinge
Journal:  Science       Date:  2021-09-10       Impact factor: 63.714

5.  Deficiency of ribosomal proteins reshapes the transcriptional and translational landscape in human cells.

Authors:  Yizhao Luan; Nan Tang; Jiaqi Yang; Shuting Liu; Chichi Cheng; Yan Wang; Congying Chen; Ya-Nan Guo; Hongwei Wang; Wenxue Zhao; Qian Zhao; Wei Li; Mengqing Xiang; Rong Ju; Zhi Xie
Journal:  Nucleic Acids Res       Date:  2022-07-08       Impact factor: 19.160

Review 6.  The nucleolus as a multiphase liquid condensate.

Authors:  Denis L J Lafontaine; Joshua A Riback; Rümeyza Bascetin; Clifford P Brangwynne
Journal:  Nat Rev Mol Cell Biol       Date:  2020-09-01       Impact factor: 94.444

7.  Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia.

Authors:  Ke An; Jing-Bo Zhou; Yao Xiong; Wei Han; Tao Wang; Zhi-Qiang Ye; Yun-Dong Wu
Journal:  Front Genet       Date:  2021-05-24       Impact factor: 4.599

8.  Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.

Authors:  Carson J Bryant; Cláudia F Lorea; Hiram Larangeira de Almeida; Letícia Weinert; Leonardo Vedolin; Filippo Pinto E Vairo; Susan J Baserga
Journal:  Proc Natl Acad Sci U S A       Date:  2021-05-11       Impact factor: 11.205

9.  Faulty ribosome biogenesis underlies the ribosomopathy alopecia, neurological defects, endocrinopathy (ANE) syndrome.

Authors:  Jennifer L Gerton
Journal:  Proc Natl Acad Sci U S A       Date:  2021-06-15       Impact factor: 11.205

10.  Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly.

Authors:  Chunyang Ni; Daniel A Schmitz; Jeon Lee; Krzysztof Pawłowski; Jun Wu; Michael Buszczak
Journal:  Cell Rep       Date:  2022-03-29       Impact factor: 9.423

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