Article
CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils.
Frontiers in immunology - 1 Jan 2018
Serwas Nina K, Huemer Jakob, Dieckmann Régis, Mejstrikova Ester, Garncarz Wojciech, Litzman Jiri, Hoeger Birgit, Zapletal Ondrej, Janda Ales, Bennett Keiryn L, Kain Renate, Kerjaschky Dontscho, Boztug Kaan
Abstract excerpt
Specific granule deficiency (SGD) is a rare disorder characterized by abnormal neutrophils evidenced by reduced granules, absence of granule proteins, and atypical bilobed nuclei. Mutations in CCAAT/enhancer-binding protein-ε (CEBPE) are one molecular etiology of the disease. Although C/EBPε has been studied extensively, the impact of CEBPE mutations on neutrophil biology remains elusive. Here, we identified two...
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