doi: 10.1126/science.1244156.
Genetics. Mysterious ribosomopathies
Affiliations
- PMID: 23970686
- PMCID: PMC3893057
- DOI: 10.1126/science.1244156
Item in Clipboard
Genetics. Mysterious ribosomopathies
Science.
.
Abstract
Ribosomes are essential in all cell types, yet mutations to ribosomal proteins or assembly factors cause tissue-specific disease.
Figures
Mutations in ribosomal proteins or ribosome biogenesis factors have been found in patients with varying tissue-specific diseases.
Similar articles
-
[Ribosomal protein in impaired erythropoiesis: Diamond-Blackfan anemia and 5q- syndrome].Rinsho Ketsueki. 2009 Oct;50(10):1539-47. Rinsho Ketsueki. 2009. PMID: 19915364 Review. Japanese. No abstract available.
-
Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies.Adv Biol Regul. 2013 Jan;53(1):8-17. doi: 10.1016/j.jbior.2012.09.002. Epub 2012 Sep 13. Adv Biol Regul. 2013. PMID: 23031788 Review.
-
Molecular pathogenesis in Diamond-Blackfan anemia.Int J Hematol. 2010 Oct;92(3):413-8. doi: 10.1007/s12185-010-0693-7. Epub 2010 Sep 30. Int J Hematol. 2010. PMID: 20882441 Review.
-
Establishing Rps6 hemizygous mice as a model for studying how ribosomal protein haploinsufficiency impairs erythropoiesis.Exp Hematol. 2012 Apr;40(4):290-4. doi: 10.1016/j.exphem.2011.12.003. Epub 2011 Dec 20. Exp Hematol. 2012. PMID: 22198155 Free PMC article.
-
Quality control mechanisms during ribosome maturation.Trends Cell Biol. 2013 May;23(5):242-50. doi: 10.1016/j.tcb.2013.01.004. Epub 2013 Feb 1. Trends Cell Biol. 2013. PMID: 23375955 Free PMC article. Review.
Cited by
-
The nucleolar protein SAHY1 is involved in pre-rRNA processing and normal plant growth.Plant Physiol. 2021 Apr 2;185(3):1039-1058. doi: 10.1093/plphys/kiaa085. Plant Physiol. 2021. PMID: 33793900 Free PMC article.
-
The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development.J Dent Res. 2016 Oct;95(11):1214-20. doi: 10.1177/0022034516651077. Epub 2016 May 24. J Dent Res. 2016. PMID: 27221611 Free PMC article. Review.
-
Ribosomal RNA Biogenesis and Its Response to Chilling Stress in Oryza sativa.Plant Physiol. 2018 May;177(1):381-397. doi: 10.1104/pp.17.01714. Epub 2018 Mar 19. Plant Physiol. 2018. PMID: 29555785 Free PMC article.
-
Arabidopsis protein arginine methyltransferase 3 is required for ribosome biogenesis by affecting precursor ribosomal RNA processing.Proc Natl Acad Sci U S A. 2014 Nov 11;111(45):16190-5. doi: 10.1073/pnas.1412697111. Epub 2014 Oct 28. Proc Natl Acad Sci U S A. 2014. PMID: 25352672 Free PMC article.
-
Ribosomes in the balance: structural equilibrium ensures translational fidelity and proper gene expression.Nucleic Acids Res. 2014 Dec 1;42(21):13384-92. doi: 10.1093/nar/gku1020. Epub 2014 Nov 11. Nucleic Acids Res. 2014. PMID: 25389262 Free PMC article.
References
-
- Raiser DM, Narla A, Ebert BL. Leuk Lymphoma. 2013;1 - PubMed
Publication types
MeSH terms
Substances
Supplementary concepts
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
