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Article

Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.

Structure (London, England : 1993) - 7 Jan 2021

Juaire Keven D, Lapouge Karine, Becker Matthias M M, Kotova Irina, Michelhans Michelle, Carapito Raphael, Wild Klemens, Bahram Seiamak, Sinning Irmgard

Abstract excerpt

The SRP54 GTPase is a key component of co-translational protein targeting by the signal recognition particle (SRP). Point mutations in SRP54 have been recently shown to lead to a form of severe congenital neutropenia displaying symptoms overlapping with those of Shwachman-Diamond syndrome. The phenotype includes severe neutropenia, exocrine pancreatic deficiency, and neurodevelopmental as well as skeletal...

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Identifiers

PMID: 33053321
DOI: 10.1016/j.str.2020.09.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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