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Article

ELANE mutant-specific activation of different UPR pathways in congenital neutropenia.

British journal of haematology - 1 Jan 2016

Nustede Rainer, Klimiankou Maksim, Klimenkova Olga, Kuznetsova Inna, Zeidler Cornelia, Welte Karl, Skokowa Julia

Abstract excerpt

A number of studies have demonstrated induction of the unfolded protein response (UPR) in patients with severe congenital neutropenia (CN) harbouring mutations of ELANE, encoding neutrophil elastase. Why UPR is not activated in patients with cyclic neutropenia (CyN) carrying the same ELANE mutations is unclear. We evaluated the effects of ELANE mutants on UPR induction in myeloid cells from CN and CyN patients,...

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Source

Identifiers

PMID: 26567890
DOI: 10.1111/bjh.13823

Genes

ELANE
SLPI
ATF6
HSPA5
DDIT3

Variants

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

ELANE mutant-specific activation of different UPR pathways in congenital neutropenia.PMID 26567890Read ↗

Inducible expression of a disease-associated ELANE mutation impairs granulocytic differentiation, without eliciting an unfolded protein responseSemantic proximity Read ↗

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.Semantic proximity Read ↗

Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cellsSemantic proximity Read ↗

Severe congenital neutropenia and the unfolded protein responseSemantic proximity Read ↗

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.Semantic proximity Read ↗

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.Semantic proximity Read ↗

Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant ElaneSemantic proximity Read ↗

Differential transcriptional control of hematopoiesis in congenital and cyclic neutropenia patients harboring ELANE mutations.Semantic proximity Read ↗

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

A Truncated Granulocyte Colony-stimulating Factor Receptor (G-CSFR) Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: IMPLICATION FOR UNDERSTANDING CSF3R GENE MUTATIONS IN SEVERE CONGENITAL NEUTROPENIA.Semantic proximity Read ↗

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.Semantic proximity Read ↗

Genetic etiologies of severe congenital neutropenia.Semantic proximity Read ↗

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