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Article

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.

Blood - 23 Jan 2014

Tidwell Timothy, Wechsler Jeremy, Nayak Ramesh C, Trump Lisa, Salipante Stephen J, Cheng Jerry C, Donadieu Jean, Glaubach Taly, Corey Seth J, Grimes H Leighton, Lutzko Carolyn, Cancelas Jose A, Horwitz Marshall S

Abstract excerpt

Hereditary neutropenia is usually caused by heterozygous germline mutations in the ELANE gene encoding neutrophil elastase (NE). How mutations cause disease remains uncertain, but two hypotheses have been proposed. In one, ELANE mutations lead to mislocalization of NE. In the other, ELANE mutations disturb protein folding, inducing an unfolded protein response in the endoplasmic reticulum (ER). In this study, we...

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Identifiers

PMID: 24184683
DOI: 10.1182/blood-2013-07-513242
PMCID: PMC3901069

Genes

ELANE

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.

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Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.PMID 24184683Read ↗

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

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

Severe congenital neutropenia: new lane for ELANE.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 ↗

ELANE mutant-specific activation of different UPR pathways in congenital neutropenia.Semantic proximity Read ↗

Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.Semantic 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 ↗

In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis.Semantic 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 ↗

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 ↗

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