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Article

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

Human molecular genetics - 1 May 2008

Choesmel Valérie, Fribourg Sébastien, Aguissa-Touré Almass-Houd, Pinaud Noël, Legrand Pierre, Gazda Hanna T, Gleizes Pierre-Emmanuel

Abstract excerpt

Diamond-Blackfan anemia (DBA) is a rare congenital disease affecting erythroid precursor differentiation. DBA is emerging as a paradigm for a new class of pathologies potentially linked to disorders in ribosome biogenesis. Three genes encoding ribosomal proteins have been associated to DBA: after RPS19, mutations in genes RPS24 and RPS17 were recently identified in a fraction of the patients. Here, we show that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18230666
DOI: 10.1093/hmg/ddn015

Genes

RPS24
RPS19
RPS17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.PMID 18230666Read ↗

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

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.Semantic proximity Read ↗

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.Semantic proximity Read ↗

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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.Semantic proximity Read ↗

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

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

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