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Article

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.

Genes & development - 1 May 2011

Finch Andrew J, Hilcenko Christine, Basse Nicolas, Drynan Lesley F, Goyenechea Beatriz, Menne Tobias F, González Fernández Africa, Simpson Paul, D'Santos Clive S, Arends Mark J, Donadieu Jean, Bellanné-Chantelot Christine, Costanzo Michael, Boone Charles, McKenzie Andrew N, Freund Stefan M V, Warren Alan J

Abstract excerpt

Removal of the assembly factor eukaryotic initiation factor 6 (eIF6) is critical for late cytoplasmic maturation of 60S ribosomal subunits. In mammalian cells, the current model posits that eIF6 release is triggered following phosphorylation of Ser 235 by activated protein kinase C. In contrast, genetic studies in yeast indicate a requirement for the ortholog of the SBDS (Shwachman-Bodian-Diamond syndrome) gene...

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Source

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Identifiers

PMID: 21536732
DOI: 10.1101/gad.623011
PMCID: PMC3084026

Genes

EFL1
SBDS
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.PMID 21536732Read ↗

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndromeSemantic proximity Read ↗

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.Semantic proximity Read ↗

Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cells.Semantic proximity Read ↗

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.Semantic proximity Read ↗

Impaired ribosomal subunit association in Shwachman-Diamond syndromeSemantic proximity Read ↗

Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.Semantic proximity Read ↗

Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.Semantic proximity Read ↗

Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?Semantic proximity Read ↗

Dynamic states of eIF6 and SDS variants modulate interactions with uL14 of the 60S ribosomal subunitSemantic proximity Read ↗

Defective ribosome assembly in Shwachman-Diamond syndrome.Semantic proximity Read ↗

Somatic genetic rescue of a germline ribosome assembly defect.Semantic proximity Read ↗

SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.Semantic proximity Read ↗

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