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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
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  Data: Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cells.
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  Data: <searchLink fieldCode="AU" term="%22Bertrand+A%22">Bertrand A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Page+SL%22">Page SL</searchLink>; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Pirabakaran+V%22">Pirabakaran V</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kermasson+L%22">Kermasson L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Brunet+E%22">Brunet E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Donadieu+J%22">Donadieu J</searchLink>; Hôpital Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Gleizes+PE%22">Gleizes PE</searchLink>; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22O'Donohue+MF%22">O'Donohue MF</searchLink>; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Revy+P%22">Revy P</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229501023%22">Molecular medicine (Cambridge, Mass.)</searchLink> [Mol Med] 2026 Apr 06; Vol. 32 (1). <i>Date of Electronic Publication: </i>2026 Apr 06.
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              Text: 2026 Apr 06
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