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Article

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response.

Blood - 15 Jul 2006

Köllner Inga, Sodeik Beate, Schreek Sabine, Heyn Holger, von Neuhoff Nils, Germeshausen Manuela, Zeidler Cornelia, Krüger Martin, Schlegelberger Brigitte, Welte Karl, Beger Carmela

Abstract excerpt

Severe congenital neutropenia (SCN) and cyclic neutropenia (CyN) are sporadic or inherited hematologic disorders of myelopoiesis. Heterozygous mutations in the gene encoding neutrophil elastase (ELA2) have been reported in both diseases. We used an inducible system to express a panel of ELA2 mutations and found for almost all mutants disruption of intracellular neutrophil elastase (HNE) protein processing at...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16551967
DOI: 10.1182/blood-2005-11-4689

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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