Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.

doi:10.1093/nar/gkz1042

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Article

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.

Nucleic acids research - 24 Jan 2020

Lezzerini Marco, Penzo Marianna, O'Donohue Marie-Françoise, Marques Dos Santos Vieira Carolina, Saby Manon, Elfrink Hyung L, Diets Illja J, Hesse Anne-Marie, Couté Yohann, Gastou Marc, Nin-Velez Alexandra, Nikkels Peter G J, Olson Alexandra N, Zonneveld-Huijssoon Evelien, Jongmans Marjolijn C J, Zhang GuangJun, van Weeghel Michel, Houtkooper Riekelt H, Wlodarski Marcin W, Kuiper Roland P, Bierings Marc B, van der Werff Ten Bosch Jutte, Leblanc Thierry, Montanaro Lorenzo, Dinman Jonathan D, Da Costa Lydie, Gleizes Pierre-Emmanuel, MacInnes Alyson W

Abstract excerpt

Variants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome that can also predispose individuals to cancer. Inherited and sporadic RP gene variants are also linked to a variety of phenotypes, including malignancy, in individuals with no anemia. Here we report an individual diagnosed with DBA carrying a variant in the 5'UTR of RPL9 (uL6). Additionally, we report two...

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PMID: 31799629
DOI: 10.1093/nar/gkz1042
PMCID: PMC6954397

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

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