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Proteostasis disruption in inherited bone marrow failure syndromes

16 Mar 2025

Abstract excerpt

ABSTRACT: Inherited bone marrow failure syndromes (IBMFS) are genetic disorders of impaired hematopoiesis that manifest in childhood with both cytopenias and extrahematologic findings. Although several IBMFS are categorized as ribosomopathies owing to shared underlying ribosomal dysfunction, there is a broader disruption of the protein homeostasis (proteostasis) network across both classic and emerging IBMFS....

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PMID: 40089997
DOI: 10.1182/blood.2024024956

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