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Article

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

Haematologica - 1 Nov 2008

Crétien Aurore, Hurtaud Corinne, Moniz Hélène, Proust Alexis, Marie Isabelle, Wagner-Ballon Orianne, Choesmel Valérie, Gleizes Pierre-Emmanuel, Leblanc Thierry, Delaunay Jean, Tchernia Gil, Mohandas Narla, Da Costa Lydie

Abstract excerpt

BACKGROUND: Mutations in the ribosomal protein S19 gene (RPS19) have been found in 25% of patients with Diamond-Blackfan anemia, a rare syndrome of congenital bone marrow failure characterized by erythroblastopenia and various malformations. Mechanistic understanding of the role of RPS19 in norma...

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Source

Identifiers

PMID: 18768533
DOI: 10.3324/haematol.13023

Genes

RPS19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18768533-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.PMID 18768533Read ↗

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

Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.Semantic proximity Read ↗

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 ↗

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

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

Impaired ribosome biogenesis in Diamond-Blackfan anemia.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 ↗

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

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

Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.Semantic proximity Read ↗

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.Semantic proximity Read ↗

Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia.Semantic proximity Read ↗

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