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Page 1
Ribosomopathies: Old Concepts, New Controversies.
Farley-Barnes KI, Ogawa LM, Baserga SJ. Farley-Barnes KI, et al. Trends Genet. 2019 Oct;35(10):754-767. doi: 10.1016/j.tig.2019.07.004. Epub 2019 Jul 31. Trends Genet. 2019. PMID: 31376929 Free PMC article. Review.
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 man …
Ribosomopathies are a diverse subset of diseases caused by reduced expression of, or mutations in, factors necessary for making ribos …
Hallmarks of ribosomopathies.
Kampen KR, Sulima SO, Vereecke S, De Keersmaecker K. Kampen KR, et al. Nucleic Acids Res. 2020 Feb 20;48(3):1013-1028. doi: 10.1093/nar/gkz637. Nucleic Acids Res. 2020. PMID: 31350888 Free PMC article. Review.
Ribosomopathies are diseases caused by defects in ribosomal constituents or in factors with a role in ribosome assembly. Intriguingly, congenital ribosomopathies display a paradoxical transition from early symptoms due to cellular hypo-proliferation to an elevated c …
Ribosomopathies are diseases caused by defects in ribosomal constituents or in factors with a role in ribosome assembly. Intriguingly …
Translation defects in ribosomopathies.
Boussaid I, Fontenay M. Boussaid I, et al. Curr Opin Hematol. 2022 May 1;29(3):119-125. doi: 10.1097/MOH.0000000000000705. Epub 2022 Jan 31. Curr Opin Hematol. 2022. PMID: 35102070 Review.
PURPOSE OF REVIEW: Congenital or acquired ribosomopathies related to mutations or deletions in ribosomal proteins gene or ribosome-associated proteins exhibit defective ribosome biogenesis that expose the cell to translation defects. ...SUMMARY: Translation selectivity is …
PURPOSE OF REVIEW: Congenital or acquired ribosomopathies related to mutations or deletions in ribosomal proteins gene or ribosome-as …
Ribosomopathies: New Therapeutic Perspectives.
Orgebin E, Lamoureux F, Isidor B, Charrier C, Ory B, Lézot F, Baud'huin M. Orgebin E, et al. Cells. 2020 Sep 11;9(9):2080. doi: 10.3390/cells9092080. Cells. 2020. PMID: 32932838 Free PMC article. Review.
Depending on the type of ribosomopathy and its pathogenicity, there are many potential therapeutic targets. The present manuscript will review our knowledge of ribosomopathies, discuss current treatments, and introduce the new therapeutic perspectives based on recen …
Depending on the type of ribosomopathy and its pathogenicity, there are many potential therapeutic targets. The present manuscript wi …
Cancer Biogenesis in Ribosomopathies.
Sulima SO, Kampen KR, De Keersmaecker K. Sulima SO, et al. Cells. 2019 Mar 11;8(3):229. doi: 10.3390/cells8030229. Cells. 2019. PMID: 30862070 Free PMC article. Review.
Ribosomopathies are congenital diseases with defects in ribosome assembly and are characterized by elevated cancer risks. ...We integrate some of these recent findings in a single model that can partially explain the paradoxical transition from hypo- to hyperproliferation …
Ribosomopathies are congenital diseases with defects in ribosome assembly and are characterized by elevated cancer risks. ...We integ …
HMG-boxes, ribosomopathies and neurodegenerative disease.
Moss T, LeDoux MS, Crane-Robinson C. Moss T, et al. Front Genet. 2023 Aug 3;14:1225832. doi: 10.3389/fgene.2023.1225832. eCollection 2023. Front Genet. 2023. PMID: 37600660 Free PMC article. Review.
The UBTF E210K neuroregression syndrome is a predominantly neurological disorder caused by recurrent de novo dominant variants in Upstream Binding Factor, that is, essential for transcription of the ribosomal RNA genes. This unusual form of ribosomopathy is characterized b …
The UBTF E210K neuroregression syndrome is a predominantly neurological disorder caused by recurrent de novo dominant variants in Upstream B …
Rare ribosomopathies: insights into mechanisms of cancer.
Aspesi A, Ellis SR. Aspesi A, et al. Nat Rev Cancer. 2019 Apr;19(4):228-238. doi: 10.1038/s41568-019-0105-0. Nat Rev Cancer. 2019. PMID: 30670820 Review.
Long thought to be too big and too ubiquitous to fail, we now know that human cells can fail to make sufficient amounts of ribosomes, causing a number of diseases collectively known as ribosomopathies. The best characterized ribosomopathies, with the exception of Tr …
Long thought to be too big and too ubiquitous to fail, we now know that human cells can fail to make sufficient amounts of ribosomes, causin …
Ribosomopathies: There's strength in numbers.
Mills EW, Green R. Mills EW, et al. Science. 2017 Nov 3;358(6363):eaan2755. doi: 10.1126/science.aan2755. Science. 2017. PMID: 29097519 Review.
Ribosomopathies are a group of human disorders most commonly caused by ribosomal protein haploinsufficiency or defects in ribosome biogenesis. ...We review current molecular models to explain ribosomopathies and attempt to reconcile the tissue specificity of these d …
Ribosomopathies are a group of human disorders most commonly caused by ribosomal protein haploinsufficiency or defects in ribosome bi …
Ribosomopathies: mechanisms of disease.
Nakhoul H, Ke J, Zhou X, Liao W, Zeng SX, Lu H. Nakhoul H, et al. Clin Med Insights Blood Disord. 2014 Aug 14;7:7-16. doi: 10.4137/CMBD.S16952. eCollection 2014. Clin Med Insights Blood Disord. 2014. PMID: 25512719 Free PMC article. Review.
Ribosomopathies are diseases caused by alterations in the structure or function of ribosomal components. Progress in our understanding of the role of the ribosome in translational and transcriptional regulation has clarified the mechanisms of the ribosomopathies and …
Ribosomopathies are diseases caused by alterations in the structure or function of ribosomal components. Progress in our understandin …
Acquired ribosomopathies in leukemia and solid tumors.
Vlachos A. Vlachos A. Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):716-719. doi: 10.1182/asheducation-2017.1.716. Hematology Am Soc Hematol Educ Program. 2017. PMID: 29222326 Free PMC article. Review.
Additional inherited and acquired defects in ribosomal proteins (RPs) continue to be identified and are the basis for a new class of diseases called the ribosomopathies. Acquired RPS14 haploinsufficiency has been found to be causative of the bone marrow failure found in 5q …
Additional inherited and acquired defects in ribosomal proteins (RPs) continue to be identified and are the basis for a new class of disease …
378 results