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Article

Impaired ribosome biogenesis in Diamond-Blackfan anemia.

Blood - 1 Feb 2007

Choesmel Valérie, Bacqueville Daniel, Rouquette Jacques, Noaillac-Depeyre Jacqueline, Fribourg Sébastien, Crétien Aurore, Leblanc Thierry, Tchernia Gil, Da Costa Lydie, Gleizes Pierre-Emmanuel

Abstract excerpt

The gene encoding the ribosomal protein S19 (RPS19) is frequently mutated in Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia. The consequence of these mutations on the onset of the disease remains obscure. Here, we show that RPS19 plays an essential role in biogenesis of the 40S small ribosomal subunit in human cells. Knockdown of RPS19 expression by siRNAs impairs 18S rRNA synthesis and formation...

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Share to Anemia, Diamond-Blackfan
Share to Cells, Cultured

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

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Share to Ribosomal Proteins

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Share to RNA, Ribosomal, 18S

Share to RNA, Small Interfering

Source

Open in PubMed Open full text

Identifiers

PMID: 17053056
DOI: 10.1182/blood-2006-07-038372
PMCID: PMC1785132

Genes

RPS19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Impaired ribosome biogenesis in Diamond-Blackfan anemia.PMID 17053056Read ↗

Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.Semantic proximity Read ↗

Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis.Semantic proximity Read ↗

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.Semantic proximity Read ↗

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.Semantic proximity Read ↗

Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency.Semantic proximity Read ↗

Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

RPS19 mutations in patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.Semantic proximity Read ↗

Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.Semantic proximity Read ↗

Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.Semantic proximity Read ↗

Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.Semantic proximity Read ↗

Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.Semantic proximity Read ↗

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