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Literature for peptidase S01.131: elastase-2

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Substrates Pharma

(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)

    2017
  1. Qiu,Y., Zhang,Y., Hu,N. and 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 Chem292, 3496-3505. PubMed  Europe PubMed DOI  M
    2. 2013
  2. Lee,H.H. and Sung,M.H.
    The neutrophil elastase mutant affects viability and differentiation of the human monocytic THP-1 cell
    Cell Biochem Funct31, 305-311. PubMed  Europe PubMed DOI  M
  3. Lee,W.I., Chen,S.H., Huang,J.L., Jaing,T.H., Chung,H.T., Yeh,K.W., Chen,L.C., Yao,T.C., Hsieh,M.Y., Lin,S.J. and Kuo,M.L.
    Identifying patients with neutrophil elastase (ELANE) mutations from patients with a presumptive diagnosis of autoimmune neutropenia
    Immunobiology218, 828-833. PubMed  Europe PubMed DOI  M
    4. 2012
  4. Enewold,L., Mechanic,L.E., Bowman,E.D., Platz,E.A. and Alberg,A.J.
    SERPINA1 and ELA2 Polymorphisms Are Not Associated with COPD or Lung Cancer
    Anticancer Res32, 3923-3928. PubMed  Europe PubMed  M
    5. 2011
  5. van de Vosse,E., Verhard,E.M., Tool,A.J., de Visser,A.W., Kuijpers,T.W., Hiemstra,P.S. and van Dissel,J.T.
    Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation
    Ann Hematol90, 151-158. PubMed  Europe PubMed DOI  M
    6. 2009
  6. Salipante,S.J., Rojas,M.E., Korkmaz,B., Duan,Z., Wechsler,J., Benson,K.F., Person,R.E., Grimes,H.L. and Horwitz,M.S.
    Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase
    Mol Cell Biol29, 4394-4405. PubMed  Europe PubMed DOI  M
    7. 2008
  7. Rosenberg,P.S., Alter,B.P., Link,D.C., Stein,S., Rodger,E., Bolyard,A.A., Aprikyan,A.A., Bonilla,M.A., Dror,Y., Kannourakis,G., Newburger,P.E., Boxer,L.A. and Dale,D.C.
    Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
    Br J Haematol140, 210-213. PubMed  Europe PubMed DOI  M
    8. 2007
  8. Ahangari,G., Chavoshzadeh,Z., Lari,Z., Ramyar,A. and Farhoudi,A.
    Novel mutation detection of an inflammatory molecule elastase II gene encoding neutrophil elastase in Kostmann syndrome
    Eur J Inflamm5, 65-71.  M
  9. Carlsson,G., Melin,M., Dahl,N., Ramme,K.G., Nordenskjold,M., Palmblad,J., Henter,J.I. and Fadeel,B.
    Kostmann syndrome or infantile genetic agranulocytosis, part two: understanding the underlying genetic defects in severe congenital neutropenia
    Acta Paediatr96, 813-819. PubMed  Europe PubMed DOI  M  V
  10. Grenda,D.S., Murakami,M., Ghatak,J., Xia,J., Boxer,L.A., Dale,D., Dinauer,M.C. and Link,D.C.
    Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis
    Blood110, 4179-4187. PubMed  Europe PubMed DOI  M
  11. Salipante,S.J., Benson,K.F., Luty,J., Hadavi,V., Kariminejad,R., Kariminejad,M.H., Rezaei,N. and Horwitz,M.S.
    Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia
    Hum Mutat28, 874-881. PubMed  Europe PubMed DOI  M
    12. 2006
  12. [YEAR:21-3-2006]Kollner,I., Sodeik,B., Schreek,S., Heyn,H., von Neuhoff,N., Germeshausen,M., Zeidler,C., Kruger,M., Schlegelberger,B., Welte,K. and Beger,C.
    Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response
    Blood108, 493-500. PubMed  Europe PubMed DOI  M
  13. Thomas,M., Jayandharan,G. and Chandy,M.
    Molecular screening of the neutrophil elastase gene in congenital neutropenia
    Indian Pediatr43, 1081-1084. PubMed  Europe PubMed  M
  14. [YEAR:19-9-2006]Thusberg,J. and Vihinen,M.
    Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations
    Hum Mutat27, 1230-1243. PubMed  Europe PubMed DOI  M
    15. 2005
  15. [YEAR:18-1-2005]Massullo,P., Druhan,L.J., Bunnell,B.A., Hunter,M.G., Robinson,J.M., Marsh,C.B. and Avalos,B.R.
    Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes
    Blood105, 3397-3404. PubMed  Europe PubMed DOI  M
    16. 2001
  16. [YEAR:1-11-2001]Ancliff,P.J., Gale,R.E., Liesner,R., Hann,I.M. and Linch,D.C.
    Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease
    Blood98, 2645-2650. PubMed  Europe PubMed DOI  M
    17. 1997
  17. Cook,L., Knight,K.R., Burdon,J.G.W., Brenton,S. and Hunt,J.M.
    Function of a rare variant of alpha-1-antitrypsin, phenotype Pi E(Franklin) S, a poor inhibitor of human neutrophil elastase
    Res Exp Med (Berl)196, 355-362. PubMed  Europe PubMed DOI  M

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