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Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes

12 Oct 2022

Abstract excerpt

The mechanisms of coordinated changes in proteome composition and their relevance for the differentiation of neutrophil granulocytes are not well studied. Here, we discover 2 novel human genetic defects in signal recognition particle receptor alpha (SRPRA) and SRP19, constituents of the mammalian cotranslational targeting machinery, and characterize their roles in neutrophil granulocyte differentiation. We...

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PMID: 36223592
DOI: 10.1182/blood.2022016783

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