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Article

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.

Molecular and cellular biology - 1 Jan 2004

Duan Zhijun, Li Feng-Qian, Wechsler Jeremy, Meade-White Kimberly, Williams Kayleen, Benson Kathleen F, Horwitz Marshall

Abstract excerpt

Mutations in ELA2, encoding the human serine protease neutrophil elastase, cause cyclic and severe congenital neutropenia, and recent evidence indicates that the mutations alter the membrane trafficking of neutrophil elastase. These disorders feature impaired bone marrow production of neutrophils along with excess monocytes-terminally differentiated lineages corresponding to the two alternative fates of myeloid...

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Share to Cloning, Molecular
Share to Leukocyte Elastase

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Mutation

Share to Neutropenia

Share to Receptors, Notch

Share to Sequence Analysis, DNA

Share to Signal Transduction

Source

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Identifiers

PMID: 14673143
DOI: 10.1128/MCB.24.1.58-70.2004
PMCID: PMC303357

Genes

EGF

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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A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.PMID 14673143Read ↗

Characterization of mutant neutrophil elastase in severe congenital neutropenia.Semantic proximity Read ↗

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Severe congenital neutropenia and the unfolded protein responseSemantic proximity Read ↗

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.Semantic proximity Read ↗

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.Semantic proximity Read ↗

Neutrophil elastase in cyclic and severe congenital neutropenia.Semantic proximity Read ↗

Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1.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 ↗

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.Semantic proximity Read ↗

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Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase.Semantic proximity Read ↗

Neutrophil Elastase Defects in Congenital Neutropenia.Semantic proximity Read ↗

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