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Article

Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane

2 Feb 2011

Abstract excerpt

Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis that in many cases is caused by mutations of the ELANE gene, which encodes neutrophil elastase (NE). Recent data suggest a model in which ELANE mutations result in NE protein misfolding, induction of endoplasmic reticulum (ER) stress, activation of the unfolded protein response (UPR), and ultimately a block in granulocytic...

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PMID: 21285438
DOI: 10.1182/blood-2010-10-311704

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