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Article

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

Molecular medicine (Cambridge, Mass.) - 6 Apr 2026

Bertrand Alexis, Page Sarah Le, Pirabakaran Vithura, Kermasson Laëtitia, Brunet Erika, Donadieu Jean, Gleizes Pierre-Emmanuel, O'Donohue Marie-Françoise, Revy Patrick

Abstract excerpt

BACKGROUND: Eukaryotic initiation factor 6 (eIF6) is an essential regulator of ribosome biogenesis that prevents the premature association of the 60S and 40S ribosomal subunits. eIF6 eviction from nascent 60S particles, mediated by the ribosome biogenesis factors SBDS and EFL1, is required for the formation of translationally competent 80S ribosomes. SBDS and EFL1 deficiencies cause Shwachman-Diamond syndrome...

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Source

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Identifiers

PMID: 41942871
DOI: 10.1186/s10020-026-01476-7
PMCID: PMC13235181

Genes

SBDS
EFL1
EIF6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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