Page 14 - Read Online
P. 14

Page 10 of 10             Mazur et al. Rare Dis Orphan Drugs J 2023;2:1  https://dx.doi.org/10.20517/rdodj.2022.12

                   neutropenia. Br J Haematol 2016;172:219-27.  DOI  PubMed
               26.      Olofsen PA, Bosch DA, Roovers O, et al. PML-controlled responses in severe congenital neutropenia with ELANE-misfolding
                   mutations. Blood Adv 2021;5:775-86.  DOI  PubMed  PMC
               27.      Tidwell T, Wechsler J, Nayak RC, et al. Neutropenia-associated ELANE mutations disrupting translation initiation produce novel
                   neutrophil elastase isoforms. Blood 2014;123:562-9.  DOI  PubMed  PMC
               28.      Köllner I, Sodeik B, Schreek S, et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein
                   accumulation and induction of the unfolded protein response. Blood 2006;108:493-500.  DOI  PubMed
               29.      Liu Q, Zhang L, Shu Z, Ding Y, Tang XM, Zhao XD. Two paternal mosaicism of mutation in ELANE causing severe congenital
                   neutropenia exhibit normal neutrophil morphology and ROS production. Clin Immunol 2019;203:53-8.  DOI  PubMed
               30.      Nayak RC, Trump LR, Aronow BJ, et al. Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem
                   cells. J Clin Invest 2015;125:3103-16.  DOI  PubMed  PMC
               31.      Massullo P, Druhan LJ, Bunnell BA, et al. Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with
                   severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes. Blood 2005;105:3397-404.  DOI  PubMed
                   PMC
               32.      Makaryan V, Kelley ML, Fletcher B, Bolyard AA, Aprikyan AA, Dale DC. Elastase inhibitors as potential therapies for ELANE-
                   associated neutropenia. J Leukoc Biol 2017;102:1143-51.  DOI  PubMed  PMC
               33.      du Bois RM, Bernaudin JF, Paakko P, Hubbard R, Takahashi H, et al. Human neutrophils express the alpha 1-antitrypsin gene and
                   produce alpha 1-antitrypsin. Blood 1991;77:2724-30.  PubMed
               34.      Sallenave JM, Si Tahar M, Cox G, Chignard M, Gauldie J. Secretory leukocyte proteinase inhibitor is a major leukocyte elastase
                   inhibitor in human neutrophils. J Leukoc Biol 1997;61:695-702.  DOI  PubMed
               35.      Allaeys I, Ribeiro de Vargas F, Bourgoin SG, Poubelle PE. Human inflammatory neutrophils express genes encoding peptidase
                   inhibitors: production of elafin mediated by NF-κB and CCAAT/enhancer-binding protein β. J Immunol 2021;206:1943-56.  DOI
                   PubMed
               36.      Badola S, Spurling H, Robison K, et al. Correlation of serpin-protease expression by comparative analysis of real-time PCR profiling
                   data. Genomics 2006;88:173-84.  DOI  PubMed
               37.      Klimenkova O, Ellerbeck W, Klimiankou M, et al. A lack of secretory leukocyte protease inhibitor (SLPI) causes defects in
                   granulocytic differentiation. Blood 2014;123:1239-49.  DOI  PubMed
               38.      Dannenmann B, Zahabi A, Mir P, et al. Human iPSC-based model of severe congenital neutropenia reveals elevated UPR and DNA
                              +
                   damage in CD34  cells preceding leukemic transformation. Exp Hematol 2019;71:51-60.  DOI  PubMed
               39.      Qiu Y, Zhang Y, Hu N, Dong F. 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. J Biol Chem 2017;292:3496-505.  DOI  PubMed  PMC
   9   10   11   12   13   14   15   16   17   18   19