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Literature DB >> 20174677

When ribosomes go bad: diseases of ribosome biogenesis.

Emily F Freed¹, Franziska Bleichert, Laura M Dutca, Susan J Baserga.

Abstract

Ribosomes are vital for cell growth and survival. Until recently, it was believed that mutations in ribosomes or ribosome biogenesis factors would be lethal, due to the essential nature of these complexes. However, in the last few decades, a number of diseases of ribosome biogenesis have been discovered. It remains a challenge in the field to elucidate the molecular mechanisms underlying them.

Entities: CellLine Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2010 PMID： 20174677 PMCID： PMC2965583 DOI： 10.1039/b919670f

Source DB: PubMed Journal: Mol Biosyst ISSN： 1742-2051

159 in total

1. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.

Authors: Valérie Choesmel; Sébastien Fribourg; Almass-Houd Aguissa-Touré; Noël Pinaud; Pierre Legrand; Hanna T Gazda; Pierre-Emmanuel Gleizes
Journal: Hum Mol Genet Date: 2008-01-29 Impact factor: 6.150

2. Prader-Willi and snoRNAs.

Authors: Jo Peters
Journal: Nat Genet Date: 2008-06 Impact factor: 38.330

Review 3. Nucleolus, ribosomes, and cancer.

Authors: Lorenzo Montanaro; Davide Treré; Massimo Derenzini
Journal: Am J Pathol Date: 2008-06-26 Impact factor: 4.307

4. A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice.

Authors: Bai-Wei Gu; Monica Bessler; Philip J Mason
Journal: Proc Natl Acad Sci U S A Date: 2008-07-14 Impact factor: 11.205

5. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Authors: Tom Vulliamy; Richard Beswick; Michael Kirwan; Anna Marrone; Martin Digweed; Amanda Walne; Inderjeet Dokal
Journal: Proc Natl Acad Sci U S A Date: 2008-06-03 Impact factor: 11.205

6. Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.

Authors: Janna Nousbeck; Ronen Spiegel; Akemi Ishida-Yamamoto; Margarita Indelman; Ayelet Shani-Adir; Noam Adir; Ehud Lipkin; Sivan Bercovici; Dan Geiger; Maurice A van Steensel; Peter M Steijlen; Reuven Bergman; Albrecht Bindereif; Mordechai Choder; Stavit Shalev; Eli Sprecher
Journal: Am J Hum Genet Date: 2008-04-24 Impact factor: 11.025

7. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

Authors: Trilochan Sahoo; Daniela del Gaudio; Jennifer R German; Marwan Shinawi; Sarika U Peters; Richard E Person; Adolfo Garnica; Sau Wai Cheung; Arthur L Beaudet
Journal: Nat Genet Date: 2008-05-25 Impact factor: 38.330

8. Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.

Authors: Kelly A McGowan; Jun Z Li; Christopher Y Park; Veronica Beaudry; Holly K Tabor; Amit J Sabnis; Weibin Zhang; Helmut Fuchs; Martin Hrabé de Angelis; Richard M Myers; Laura D Attardi; Gregory S Barsh
Journal: Nat Genet Date: 2008-07-20 Impact factor: 38.330

9. SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice.

Authors: Feng Ding; Hong Hua Li; Shengwen Zhang; Nicola M Solomon; Sally A Camper; Pinchas Cohen; Uta Francke
Journal: PLoS One Date: 2008-03-05 Impact factor: 3.240

10. Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes.

Authors: Andrea Pellagatti; Eva Hellström-Lindberg; Aristoteles Giagounidis; Janet Perry; Luca Malcovati; Matteo G Della Porta; Martin Jädersten; Sally Killick; Carrie Fidler; Mario Cazzola; James S Wainscoat; Jacqueline Boultwood
Journal: Br J Haematol Date: 2008-05-08 Impact factor: 6.998

89 in total

1. Localization of eukaryote-specific ribosomal proteins in a 5.5-Å cryo-EM map of the 80S eukaryotic ribosome.

Authors: Jean-Paul Armache; Alexander Jarasch; Andreas M Anger; Elizabeth Villa; Thomas Becker; Shashi Bhushan; Fabrice Jossinet; Michael Habeck; Gülcin Dindar; Sibylle Franckenberg; Viter Marquez; Thorsten Mielke; Michael Thomm; Otto Berninghausen; Birgitta Beatrix; Johannes Söding; Eric Westhof; Daniel N Wilson; Roland Beckmann
Journal: Proc Natl Acad Sci U S A Date: 2010-10-25 Impact factor: 11.205

When ribosomes go bad: diseases of ribosome biogenesis.

1. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.

2. Prader-Willi and snoRNAs.

Review 3. Nucleolus, ribosomes, and cancer.

4. A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice.

5. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

6. Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.

7. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

8. Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.

9. SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice.

10. Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes.

1. Localization of eukaryote-specific ribosomal proteins in a 5.5-Å cryo-EM map of the 80S eukaryotic ribosome.

2. Cryo-EM structure and rRNA model of a translating eukaryotic 80S ribosome at 5.5-A resolution.

Review 3. Emerging roles of the neuronal nucleolus.

Review 4. Paradigms of ribosome synthesis: Lessons learned from ribosomal proteins.

5. Nucleolar Enrichment of Brain Proteins with Critical Roles in Human Neurodevelopment.

Review 6. The small subunit processome in ribosome biogenesis—progress and prospects.

7. Distinct Functions of the Cap-Binding Complex in Stimulation of Nuclear mRNA Export.

Review 8. Noncoding RNAs in eukaryotic ribosome biogenesis and function.

9. TRNA mutations that affect decoding fidelity deregulate development and the proteostasis network in zebrafish.

10. A protein inventory of human ribosome biogenesis reveals an essential function of exportin 5 in 60S subunit export.