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

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Title: Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cells.
Authors: Bertrand A; Laboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue 2026, INSERM UMR 1163, Imagine Institute, Paris, France. alexis.bertrand92@gmail.com.; Université Paris Cité, Imagine Institute, Paris, France. alexis.bertrand92@gmail.com.; Université Paris Saclay, Saclay, France. alexis.bertrand92@gmail.com.; Present Address: Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Manhasset, NY, USA. alexis.bertrand92@gmail.com., Page SL; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, Toulouse, France., Pirabakaran V; Laboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue 2026, INSERM UMR 1163, Imagine Institute, Paris, France.; Université Paris Cité, Imagine Institute, Paris, France., Kermasson L; Laboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue 2026, INSERM UMR 1163, Imagine Institute, Paris, France.; Université Paris Cité, Imagine Institute, Paris, France., Brunet E; Laboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue 2026, INSERM UMR 1163, Imagine Institute, Paris, France.; Université Paris Cité, Imagine Institute, Paris, France., Donadieu J; Hôpital Trousseau, Paris, France., Gleizes PE; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, Toulouse, France., O'Donohue MF; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, Toulouse, France., Revy P; Laboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue 2026, INSERM UMR 1163, Imagine Institute, Paris, France. patrick.revy@inserm.fr.; Université Paris Cité, Imagine Institute, Paris, France. patrick.revy@inserm.fr.
Source: Molecular medicine (Cambridge, Mass.) [Mol Med] 2026 Apr 06; Vol. 32 (1). Date of Electronic Publication: 2026 Apr 06.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 9501023 Publication Model: Electronic Cited Medium: Internet ISSN: 1528-3658 (Electronic) Linking ISSN: 10761551 NLM ISO Abbreviation: Mol Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1528-3658
DOI:10.1186/s10020-026-01476-7