The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Ribosomopathies: human disorders of ribosome dysfunction
Open accessAbstract
Ribosomopathies compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes. Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hypoplastic, macrocytic anemia. Mutations in other genes required for normal ribosome biogenesis have been implicated in other rare congenital syndromes, Schwachman-Diamond syndrome, dyskeratosis congenita, cartilage hair hypoplasia, and Treacher Collins syndrome. In addition, the 5q− syndrome, a subtype of myelodysplastic syndrome, is caused by a somatically acquired deletion of chromosome 5q, which leads to haploinsufficiency of the ribosomal protein RPS14 and an erythroid phenotype highly similar to Diamond-Blackfan anemia. Acquired abnormalities in ribosome function have been implicated more broadly in human malignancies. The p53 pathway provides a surveillance mechanism for protein translation as well as genome integrity and is activated by defects in ribosome biogenesis; this pathway appears to be a critical mediator of many of the clinical features of ribosomopathies. Elucidation of the mechanisms whereby selective abnormalities in ribosome biogenesis cause specific clinical syndromes will hopefully lead to novel therapeutic strategies for these diseases.
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Cites
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Cited by
A census of human RNA-binding proteins
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Lenalidomide induces ubiquitination and degradation of CK1α in del(5q) MDS
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Metadata
- Authors
- Narla, A., & Ebert, B. L.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2010-04-22
- Volume
- 115
- Issue
- 16
- Pages
- 3196-3205
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2084104969
- Cited by
- 809
- References
- 8
- FWCI
- 27.66
- Type
- journal article
- Language
- en
- Open access
- bronze
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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