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Article

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

Human molecular genetics - 15 Jul 2007

Angelini Mara, Cannata Stefano, Mercaldo Valentina, Gibello Luisa, Santoro Claudio, Dianzani Irma, Loreni Fabrizio

Abstract excerpt

RPS19 has been identified as the first gene associated with Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. It is mutated in approximately 25% of the patients although doubts remain as to whether DBA clinical phenotype depends on the ribosomal function of RPS19 or on an extra-ribosomal role or on both. RPS19 mRNAs with mutations that introduce...

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Identifiers

PMID: 17517689
DOI: 10.1093/hmg/ddm120

Genes

RPS19

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.PMID 17517689Read ↗

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

RPS19 mutations in patients with Diamond-Blackfan anemia.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 ↗

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 ↗

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 ↗

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

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

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

The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.Semantic proximity Read ↗

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

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